Canonical Allele Identifier: CA379798436

Gene: ABCC8

Linked Data

• ClinVar Variation Id: 2576202
• ClinVar RCV Id: RCV003322263 ; RCV003466060
• dbSNP Id: rs1262517518
• gnomAD v2: 11-17426176-A-C
• gnomAD v4: 11-17404629-A-C
• MyVariant Identifiers: chr11:g.17426176A>C (hg19) ; chr11:g.17404629A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17404629A>C , CM000673.2:g.17404629A>C	GRCh38
NC_000011.9:g.17426176A>C , CM000673.1:g.17426176A>C	GRCh37
NC_000011.8:g.17382752A>C	NCBI36
NG_008867.1:g.77274T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3009T>G
ENST00000528374.2:c.19T>G
ENST00000529967.6:n.1779T>G
ENST00000532220.2:n.1172T>G
ENST00000642611.2:n.3509T>G
ENST00000645004.2:n.939T>G
ENST00000682051.1:n.3456T>G
ENST00000682110.1:n.3509T>G
ENST00000682140.1:c.3437T>G	ENSP00000507829.1:p.Leu1146Arg
ENST00000682185.1:n.4745T>G
ENST00000682204.1:c.*1578T>G	ENSP00000507094.1:n.*1578T>G
ENST00000682215.1:n.3506T>G
ENST00000682288.1:c.*1871T>G	ENSP00000507506.1:n.*1871T>G
ENST00000682442.1:n.3729T>G
ENST00000682528.1:n.3586T>G
ENST00000682673.1:n.3453T>G
ENST00000682805.1:n.3506T>G
ENST00000682965.1:c.3396+865T>G	ENSP00000508229.1:n.3396+865T>G
ENST00000683093.1:n.3608T>G
ENST00000683136.1:c.3437T>G	ENSP00000507768.1:p.Leu1146Arg
ENST00000683153.1:n.3665T>G
ENST00000683365.1:n.3611T>G
ENST00000683377.1:n.3509T>G
ENST00000683456.1:c.*577T>G	ENSP00000508318.1:n.*577T>G
ENST00000683522.1:n.3509T>G
ENST00000683562.1:c.*1609T>G	ENSP00000508265.1:n.*1609T>G
ENST00000683693.1:n.3586T>G
ENST00000683725.1:c.3440T>G	ENSP00000507496.1:p.Leu1147Arg
ENST00000684010.1:n.3504T>G
ENST00000684157.1:n.3509T>G
ENST00000684253.1:n.3412T>G
ENST00000684288.1:c.*1612T>G	ENSP00000507143.1:n.*1612T>G
ENST00000684313.1:n.2941T>G
ENST00000684332.1:n.3582T>G
ENST00000684371.1:n.3615T>G
ENST00000684404.1:n.3552T>G
ENST00000684442.1:n.3509T>G
ENST00000684555.1:c.*1652T>G	ENSP00000507705.1:n.*1652T>G
ENST00000684571.1:c.3281T>G	ENSP00000506935.1:p.Leu1094Arg
ENST00000684593.1:c.*3145T>G	ENSP00000507005.1:n.*3145T>G
ENST00000684711.1:c.*1836T>G	ENSP00000506841.1:n.*1836T>G
ENST00000302539.9:c.3443T>G	ENSP00000303960.4:p.Leu1148Arg
ENST00000389817.8:c.3440T>G MANE Select	ENSP00000374467.4:p.Leu1147Arg
ENST00000642271.1:c.3437T>G	ENSP00000493749.1:p.Leu1146Arg
ENST00000642579.1:c.1524T>G
ENST00000642611.1:n.3394T>G
ENST00000642902.1:c.3222T>G
ENST00000643260.1:c.3440T>G	ENSP00000494450.1:p.Leu1147Arg
ENST00000643562.1:c.*1416T>G	ENSP00000496124.1:n.*1416T>G
ENST00000643925.1:c.1564T>G
ENST00000644447.1:c.1796T>G	ENSP00000496282.1:p.Leu599Arg
ENST00000644484.1:c.*1695T>G	ENSP00000493558.1:n.*1695T>G
ENST00000644675.1:c.*1612T>G	ENSP00000494567.1:n.*1612T>G
ENST00000644757.1:c.*1725T>G	ENSP00000495085.1:n.*1725T>G
ENST00000644772.1:c.3506T>G	ENSP00000494321.1:p.Leu1169Arg
ENST00000645004.1:n.579T>G
ENST00000645076.1:c.2639T>G
ENST00000645417.1:c.606T>G
ENST00000645744.1:c.*1704T>G	ENSP00000494564.1:n.*1704T>G
ENST00000645760.1:c.3715T>G
ENST00000645884.1:c.*577T>G	ENSP00000495516.1:n.*577T>G
ENST00000646003.1:c.*1396T>G	ENSP00000495259.1:n.*1396T>G
ENST00000646207.1:c.*1907T>G	ENSP00000495025.1:n.*1907T>G
ENST00000646276.1:c.*1713T>G	ENSP00000496070.1:n.*1713T>G
ENST00000646592.1:c.2746T>G
ENST00000646902.1:c.3437T>G	ENSP00000494101.1:p.Leu1146Arg
ENST00000646993.1:c.*1836T>G	ENSP00000493720.1:n.*1836T>G
ENST00000647013.1:c.3446T>G	ENSP00000496741.1:n.3446T>G
ENST00000647015.1:c.3191T>G	ENSP00000495389.1:p.Leu1064Arg
ENST00000647086.1:c.*3170T>G	ENSP00000493677.1:n.*3170T>G
ENST00000647158.1:c.*1581T>G	ENSP00000495744.1:n.*1581T>G
ENST00000302539.8:c.3443T>G	ENSP00000303960.4:p.Leu1148Arg
ENST00000389817.7:c.3440T>G	ENSP00000374467.3:p.Leu1147Arg
ENST00000524561.1:n.572T>G
ENST00000527905.5:c.*316T>G	ENSP00000431653.1:n.*316T>G
NM_000352.4:c.3440T>G	NP_000343.2:p.Leu1147Arg
NM_001287174.1:c.3443T>G	NP_001274103.1:p.Leu1148Arg
XM_011520331.1:c.3440T>G	XP_011518633.1:p.Leu1147Arg
XM_011520332.1:c.3443T>G	XP_011518634.1:p.Leu1148Arg
XM_011520333.1:c.1940T>G	XP_011518635.1:p.Leu647Arg
XR_930890.1:n.3506T>G
XR_930892.1:n.3406T>G
XR_930893.1:n.3403T>G
NM_001351295.1:c.3506T>G	NP_001338224.1:p.Leu1169Arg
NM_001351296.1:c.3440T>G	NP_001338225.1:p.Leu1147Arg
NM_001351297.1:c.3437T>G	NP_001338226.1:p.Leu1146Arg
NR_147094.1:n.3589T>G
XM_017018197.2:c.3509T>G	XP_016873686.1:p.Leu1170Arg
XM_017018199.1:c.3506T>G	XP_016873688.1:p.Leu1169Arg
XM_017018201.2:c.3509T>G	XP_016873690.1:p.Leu1170Arg
XM_017018202.1:c.2006T>G	XP_016873691.1:p.Leu669Arg
XM_017018204.1:c.1397T>G	XP_016873693.1:p.Leu466Arg
XM_024448668.1:c.1808T>G	XP_024304436.1:p.Leu603Arg
XR_001747945.2:n.3581T>G
XR_001747946.2:n.3512T>G
XR_002957189.1:n.3661T>G
NM_000352.6:c.3440T>G MANE Select	NP_000343.2:p.Leu1147Arg
NM_001287174.2:c.3443T>G	NP_001274103.1:p.Leu1148Arg
NM_001351295.2:c.3506T>G	NP_001338224.1:p.Leu1169Arg
NM_001351296.2:c.3440T>G	NP_001338225.1:p.Leu1147Arg
NM_001351297.2:c.3437T>G	NP_001338226.1:p.Leu1146Arg
NR_147094.2:n.3589T>G
NM_001287174.3:c.3443T>G	NP_001274103.1:p.Leu1148Arg