Canonical Allele Identifier: CA379785682

Gene: ABCC8

Linked Data

• dbSNP Id: rs1454561346
• gnomAD v2: 11-17416791-C-G
• MyVariant Identifiers: chr11:g.17416791C>G (hg19) ; chr11:g.17395244C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395244C>G , CM000673.2:g.17395244C>G	GRCh38
NC_000011.9:g.17416791C>G , CM000673.1:g.17416791C>G	GRCh37
NC_000011.8:g.17373367C>G	NCBI36
NG_008867.1:g.86659G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3940G>C
ENST00000526037.6:n.274G>C
ENST00000528374.2:c.930G>C
ENST00000529967.6:n.2678G>C
ENST00000532220.2:n.3572G>C
ENST00000642611.2:n.5672G>C
ENST00000644057.2:n.915G>C
ENST00000645004.2:n.1838G>C
ENST00000682051.1:n.4501G>C
ENST00000682110.1:n.4554G>C
ENST00000682140.1:c.*125G>C	ENSP00000507829.1:n.*125G>C
ENST00000682185.1:n.5644G>C
ENST00000682204.1:c.*2477G>C	ENSP00000507094.1:n.*2477G>C
ENST00000682215.1:n.4921G>C
ENST00000682288.1:c.*2770G>C	ENSP00000507506.1:n.*2770G>C
ENST00000682442.1:n.4774G>C
ENST00000682528.1:n.4631G>C
ENST00000682673.1:n.4498G>C
ENST00000682805.1:n.4959G>C
ENST00000682965.1:c.*761G>C	ENSP00000508229.1:n.*761G>C
ENST00000683093.1:n.5606+366G>C
ENST00000683136.1:c.4222G>C	ENSP00000507768.1:p.Asp1408His
ENST00000683153.1:n.4596G>C
ENST00000683365.1:n.4656G>C
ENST00000683377.1:n.4522+366G>C
ENST00000683456.1:c.*1476G>C	ENSP00000508318.1:n.*1476G>C
ENST00000683522.1:n.4554G>C
ENST00000683562.1:c.*2476+366G>C	ENSP00000508265.1:n.*2476+366G>C
ENST00000683693.1:n.6087+366G>C
ENST00000683725.1:c.4307+366G>C	ENSP00000507496.1:n.4307+366G>C
ENST00000684010.1:n.4549G>C
ENST00000684157.1:n.5539G>C
ENST00000684253.1:n.4457G>C
ENST00000684288.1:c.*2511G>C	ENSP00000507143.1:n.*2511G>C
ENST00000684313.1:n.3986G>C
ENST00000684332.1:n.4627G>C
ENST00000684371.1:n.4660G>C
ENST00000684404.1:n.5582G>C
ENST00000684442.1:n.4778G>C
ENST00000684555.1:c.*2551G>C	ENSP00000507705.1:n.*2551G>C
ENST00000684571.1:c.4180G>C	ENSP00000506935.1:p.Asp1394His
ENST00000684593.1:c.*4044G>C	ENSP00000507005.1:n.*4044G>C
ENST00000684711.1:c.*2735G>C	ENSP00000506841.1:n.*2735G>C
ENST00000302539.9:c.4342G>C	ENSP00000303960.4:p.Asp1448His
ENST00000389817.8:c.4339G>C MANE Select	ENSP00000374467.4:p.Asp1447His
ENST00000642271.1:c.4336G>C	ENSP00000493749.1:p.Asp1446His
ENST00000642579.1:c.2393G>C
ENST00000642611.1:n.5557G>C
ENST00000642902.1:c.4121G>C
ENST00000643260.1:c.4339G>C	ENSP00000494450.1:p.Asp1447His
ENST00000643562.1:c.*2461G>C	ENSP00000496124.1:n.*2461G>C
ENST00000643925.1:c.2979G>C
ENST00000644057.1:n.416G>C
ENST00000644484.1:c.*3725G>C	ENSP00000493558.1:n.*3725G>C
ENST00000644675.1:c.*2511G>C	ENSP00000494567.1:n.*2511G>C
ENST00000644757.1:c.*3202+1020G>C	ENSP00000495085.1:n.*3202+1020G>C
ENST00000644772.1:c.4405G>C	ENSP00000494321.1:p.Asp1469His
ENST00000645004.1:n.2032G>C
ENST00000645076.1:c.3506+366G>C
ENST00000645417.1:c.1527G>C
ENST00000645744.1:c.*4024G>C	ENSP00000494564.1:n.*4024G>C
ENST00000645760.1:c.4760G>C
ENST00000645884.1:c.*1622G>C	ENSP00000495516.1:n.*1622G>C
ENST00000646003.1:c.*2361G>C	ENSP00000495259.1:n.*2361G>C
ENST00000646207.1:c.*3176G>C	ENSP00000495025.1:n.*3176G>C
ENST00000646276.1:c.*3743G>C	ENSP00000496070.1:n.*3743G>C
ENST00000646592.1:c.3645G>C
ENST00000646902.1:c.4306G>C	ENSP00000494101.1:p.Asp1436His
ENST00000646993.1:c.*2849+366G>C	ENSP00000493720.1:n.*2849+366G>C
ENST00000647013.1:c.4345G>C	ENSP00000496741.1:n.4345G>C
ENST00000647015.1:c.4090G>C	ENSP00000495389.1:p.Asp1364His
ENST00000647086.1:c.*3925G>C	ENSP00000493677.1:n.*3925G>C
ENST00000647158.1:c.*2626G>C	ENSP00000495744.1:n.*2626G>C
ENST00000302539.8:c.4342G>C	ENSP00000303960.4:p.Asp1448His
ENST00000389817.7:c.4339G>C	ENSP00000374467.3:p.Asp1447His
ENST00000525022.1:n.306+366G>C
ENST00000526037.5:n.171+366G>C
ENST00000526168.5:c.127G>C
ENST00000531642.5:c.370G>C
NM_000352.4:c.4339G>C	NP_000343.2:p.Asp1447His
NM_001287174.1:c.4342G>C	NP_001274103.1:p.Asp1448His
XM_011520331.1:c.4339G>C	XP_011518633.1:p.Asp1447His
XM_011520332.1:c.4310+366G>C	XP_011518634.1:n.4310+366G>C
XM_011520333.1:c.2839G>C	XP_011518635.1:p.Asp947His
XR_930890.1:n.4373+366G>C
NM_001351295.1:c.4405G>C	NP_001338224.1:p.Asp1469His
NM_001351296.1:c.4339G>C	NP_001338225.1:p.Asp1447His
NM_001351297.1:c.4336G>C	NP_001338226.1:p.Asp1446His
NR_147094.1:n.4634G>C
XM_017018197.2:c.4408G>C	XP_016873686.1:p.Asp1470His
XM_017018199.1:c.4405G>C	XP_016873688.1:p.Asp1469His
XM_017018201.2:c.4376+366G>C	XP_016873690.1:n.4376+366G>C
XM_017018202.1:c.2905G>C	XP_016873691.1:p.Asp969His
XM_017018204.1:c.2296G>C	XP_016873693.1:p.Asp766His
XM_024448668.1:c.2707G>C	XP_024304436.1:p.Asp903His
XR_001747945.2:n.4448+366G>C
XR_001747946.2:n.4379+366G>C
XR_002957189.1:n.6162+366G>C
NM_000352.6:c.4339G>C MANE Select	NP_000343.2:p.Asp1447His
NM_001287174.2:c.4342G>C	NP_001274103.1:p.Asp1448His
NM_001351295.2:c.4405G>C	NP_001338224.1:p.Asp1469His
NM_001351296.2:c.4339G>C	NP_001338225.1:p.Asp1447His
NM_001351297.2:c.4336G>C	NP_001338226.1:p.Asp1446His
NR_147094.2:n.4634G>C
NM_001287174.3:c.4342G>C	NP_001274103.1:p.Asp1448His