Canonical Allele Identifier: CA274147

Gene: ABCC8

Linked Data

• ClinVar Variation Id: 188931
• ClinVar RCV Id: RCV000169299 ; RCV000586940
• dbSNP Id: rs72559716
• ExAC: 11:17416719 C / T
• gnomAD v2: 11-17416719-C-T
• gnomAD v3: 11-17395172-C-T
• gnomAD v4: 11-17395172-C-T
• MyVariant Identifiers: chr11:g.17416719C>T (hg19) ; chr11:g.17395172C>T (hg38)
• PubMed: PMID:10720932 ; PMID:14764815 ; PMID:15562009 ; PMID:17378627 ; PMID:17466004 ; PMID:18988933 ; PMID:20427569 ; PMID:20685672 ; PMID:20799350 ; PMID:24616771

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395172C>T , CM000673.2:g.17395172C>T	GRCh38
NC_000011.9:g.17416719C>T , CM000673.1:g.17416719C>T	GRCh37
NC_000011.8:g.17373295C>T	NCBI36
NG_008867.1:g.86731G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.4012G>A
ENST00000526037.6:n.346G>A
ENST00000528374.2:c.1002G>A
ENST00000529967.6:n.2750G>A
ENST00000532220.2:n.3644G>A
ENST00000642611.2:n.5744G>A
ENST00000644057.2:n.987G>A
ENST00000645004.2:n.1910G>A
ENST00000682051.1:n.4573G>A
ENST00000682110.1:n.4626G>A
ENST00000682140.1:c.*197G>A	ENSP00000507829.1:n.*197G>A
ENST00000682185.1:n.5716G>A
ENST00000682204.1:c.*2549G>A	ENSP00000507094.1:n.*2549G>A
ENST00000682215.1:n.4993G>A
ENST00000682288.1:c.*2842G>A	ENSP00000507506.1:n.*2842G>A
ENST00000682442.1:n.4846G>A
ENST00000682528.1:n.4703G>A
ENST00000682673.1:n.4570G>A
ENST00000682805.1:n.5031G>A
ENST00000682965.1:c.*833G>A	ENSP00000508229.1:n.*833G>A
ENST00000683093.1:n.5606+438G>A
ENST00000683136.1:c.4294G>A	ENSP00000507768.1:p.Asp1432Asn
ENST00000683153.1:n.4668G>A
ENST00000683365.1:n.4728G>A
ENST00000683377.1:n.4522+438G>A
ENST00000683456.1:c.*1548G>A	ENSP00000508318.1:n.*1548G>A
ENST00000683522.1:n.4626G>A
ENST00000683562.1:c.*2476+438G>A	ENSP00000508265.1:n.*2476+438G>A
ENST00000683693.1:n.6087+438G>A
ENST00000683725.1:c.4307+438G>A	ENSP00000507496.1:n.4307+438G>A
ENST00000684010.1:n.4621G>A
ENST00000684157.1:n.5611G>A
ENST00000684253.1:n.4529G>A
ENST00000684288.1:c.*2583G>A	ENSP00000507143.1:n.*2583G>A
ENST00000684313.1:n.4058G>A
ENST00000684332.1:n.4699G>A
ENST00000684371.1:n.4732G>A
ENST00000684404.1:n.5654G>A
ENST00000684442.1:n.4850G>A
ENST00000684555.1:c.*2623G>A	ENSP00000507705.1:n.*2623G>A
ENST00000684571.1:c.4252G>A	ENSP00000506935.1:p.Asp1418Asn
ENST00000684593.1:c.*4116G>A	ENSP00000507005.1:n.*4116G>A
ENST00000684711.1:c.*2807G>A	ENSP00000506841.1:n.*2807G>A
ENST00000302539.9:c.4414G>A	ENSP00000303960.4:p.Asp1472Asn
ENST00000389817.8:c.4411G>A MANE Select	ENSP00000374467.4:p.Asp1471Asn
ENST00000642271.1:c.4408G>A	ENSP00000493749.1:p.Asp1470Asn
ENST00000642579.1:c.2465G>A
ENST00000642611.1:n.5629G>A
ENST00000642902.1:c.4193G>A
ENST00000643260.1:c.4411G>A	ENSP00000494450.1:p.Asp1471Asn
ENST00000643562.1:c.*2533G>A	ENSP00000496124.1:n.*2533G>A
ENST00000643925.1:c.3051G>A
ENST00000644057.1:n.488G>A
ENST00000644484.1:c.*3797G>A	ENSP00000493558.1:n.*3797G>A
ENST00000644675.1:c.*2583G>A	ENSP00000494567.1:n.*2583G>A
ENST00000644757.1:c.*3202+1092G>A	ENSP00000495085.1:n.*3202+1092G>A
ENST00000644772.1:c.4477G>A	ENSP00000494321.1:p.Asp1493Asn
ENST00000645004.1:n.2104G>A
ENST00000645076.1:c.3506+438G>A
ENST00000645417.1:c.1599G>A
ENST00000645744.1:c.*4096G>A	ENSP00000494564.1:n.*4096G>A
ENST00000645760.1:c.4832G>A
ENST00000645884.1:c.*1694G>A	ENSP00000495516.1:n.*1694G>A
ENST00000646003.1:c.*2433G>A	ENSP00000495259.1:n.*2433G>A
ENST00000646207.1:c.*3248G>A	ENSP00000495025.1:n.*3248G>A
ENST00000646276.1:c.*3815G>A	ENSP00000496070.1:n.*3815G>A
ENST00000646592.1:c.3717G>A
ENST00000646902.1:c.4378G>A	ENSP00000494101.1:p.Asp1460Asn
ENST00000646993.1:c.*2849+438G>A	ENSP00000493720.1:n.*2849+438G>A
ENST00000647013.1:c.4417G>A	ENSP00000496741.1:n.4417G>A
ENST00000647015.1:c.4162G>A	ENSP00000495389.1:p.Asp1388Asn
ENST00000647086.1:c.*3997G>A	ENSP00000493677.1:n.*3997G>A
ENST00000647158.1:c.*2698G>A	ENSP00000495744.1:n.*2698G>A
ENST00000302539.8:c.4414G>A	ENSP00000303960.4:p.Asp1472Asn
ENST00000389817.7:c.4411G>A	ENSP00000374467.3:p.Asp1471Asn
ENST00000525022.1:n.306+438G>A
ENST00000526037.5:n.171+438G>A
ENST00000526168.5:c.199G>A
ENST00000531642.5:c.442G>A
NM_000352.4:c.4411G>A	NP_000343.2:p.Asp1471Asn
NM_001287174.1:c.4414G>A	NP_001274103.1:p.Asp1472Asn
XM_011520331.1:c.4411G>A	XP_011518633.1:p.Asp1471Asn
XM_011520332.1:c.4310+438G>A	XP_011518634.1:n.4310+438G>A
XM_011520333.1:c.2911G>A	XP_011518635.1:p.Asp971Asn
XR_930890.1:n.4373+438G>A
NM_001351295.1:c.4477G>A	NP_001338224.1:p.Asp1493Asn
NM_001351296.1:c.4411G>A	NP_001338225.1:p.Asp1471Asn
NM_001351297.1:c.4408G>A	NP_001338226.1:p.Asp1470Asn
NR_147094.1:n.4706G>A
XM_017018197.2:c.4480G>A	XP_016873686.1:p.Asp1494Asn
XM_017018199.1:c.4477G>A	XP_016873688.1:p.Asp1493Asn
XM_017018201.2:c.4376+438G>A	XP_016873690.1:n.4376+438G>A
XM_017018202.1:c.2977G>A	XP_016873691.1:p.Asp993Asn
XM_017018204.1:c.2368G>A	XP_016873693.1:p.Asp790Asn
XM_024448668.1:c.2779G>A	XP_024304436.1:p.Asp927Asn
XR_001747945.2:n.4448+438G>A
XR_001747946.2:n.4379+438G>A
XR_002957189.1:n.6162+438G>A
NM_000352.6:c.4411G>A MANE Select	NP_000343.2:p.Asp1471Asn
NM_001287174.2:c.4414G>A	NP_001274103.1:p.Asp1472Asn
NM_001351295.2:c.4477G>A	NP_001338224.1:p.Asp1493Asn
NM_001351296.2:c.4411G>A	NP_001338225.1:p.Asp1471Asn
NM_001351297.2:c.4408G>A	NP_001338226.1:p.Asp1470Asn
NR_147094.2:n.4706G>A
NM_001287174.3:c.4414G>A	NP_001274103.1:p.Asp1472Asn