Canonical Allele Identifier: CA379798183

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17426147A>C (hg19) ; chr11:g.17404600A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17404600A>C , CM000673.2:g.17404600A>C	GRCh38
NC_000011.9:g.17426147A>C , CM000673.1:g.17426147A>C	GRCh37
NC_000011.8:g.17382723A>C	NCBI36
NG_008867.1:g.77303T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3038T>G
ENST00000528374.2:c.48T>G
ENST00000529967.6:n.1808T>G
ENST00000532220.2:n.1201T>G
ENST00000642611.2:n.3538T>G
ENST00000645004.2:n.968T>G
ENST00000682051.1:n.3485T>G
ENST00000682110.1:n.3538T>G
ENST00000682140.1:c.3466T>G	ENSP00000507829.1:p.Ser1156Ala
ENST00000682185.1:n.4774T>G
ENST00000682204.1:c.*1607T>G	ENSP00000507094.1:n.*1607T>G
ENST00000682215.1:n.3535T>G
ENST00000682288.1:c.*1900T>G	ENSP00000507506.1:n.*1900T>G
ENST00000682442.1:n.3758T>G
ENST00000682528.1:n.3615T>G
ENST00000682673.1:n.3482T>G
ENST00000682805.1:n.3535T>G
ENST00000682965.1:c.3396+894T>G	ENSP00000508229.1:n.3396+894T>G
ENST00000683093.1:n.3637T>G
ENST00000683136.1:c.3466T>G	ENSP00000507768.1:p.Ser1156Ala
ENST00000683153.1:n.3694T>G
ENST00000683365.1:n.3640T>G
ENST00000683377.1:n.3538T>G
ENST00000683456.1:c.*606T>G	ENSP00000508318.1:n.*606T>G
ENST00000683522.1:n.3538T>G
ENST00000683562.1:c.*1638T>G	ENSP00000508265.1:n.*1638T>G
ENST00000683693.1:n.3615T>G
ENST00000683725.1:c.3469T>G	ENSP00000507496.1:p.Ser1157Ala
ENST00000684010.1:n.3533T>G
ENST00000684157.1:n.3538T>G
ENST00000684253.1:n.3441T>G
ENST00000684288.1:c.*1641T>G	ENSP00000507143.1:n.*1641T>G
ENST00000684313.1:n.2970T>G
ENST00000684332.1:n.3611T>G
ENST00000684371.1:n.3644T>G
ENST00000684404.1:n.3581T>G
ENST00000684442.1:n.3538T>G
ENST00000684555.1:c.*1681T>G	ENSP00000507705.1:n.*1681T>G
ENST00000684571.1:c.3310T>G	ENSP00000506935.1:p.Ser1104Ala
ENST00000684593.1:c.*3174T>G	ENSP00000507005.1:n.*3174T>G
ENST00000684711.1:c.*1865T>G	ENSP00000506841.1:n.*1865T>G
ENST00000302539.9:c.3472T>G	ENSP00000303960.4:p.Ser1158Ala
ENST00000389817.8:c.3469T>G MANE Select	ENSP00000374467.4:p.Ser1157Ala
ENST00000642271.1:c.3466T>G	ENSP00000493749.1:p.Ser1156Ala
ENST00000642579.1:c.1553T>G
ENST00000642611.1:n.3423T>G
ENST00000642902.1:c.3251T>G
ENST00000643260.1:c.3469T>G	ENSP00000494450.1:p.Ser1157Ala
ENST00000643562.1:c.*1445T>G	ENSP00000496124.1:n.*1445T>G
ENST00000643925.1:c.1593T>G
ENST00000644447.1:c.1825T>G	ENSP00000496282.1:p.Ser609Ala
ENST00000644484.1:c.*1724T>G	ENSP00000493558.1:n.*1724T>G
ENST00000644675.1:c.*1641T>G	ENSP00000494567.1:n.*1641T>G
ENST00000644757.1:c.*1754T>G	ENSP00000495085.1:n.*1754T>G
ENST00000644772.1:c.3535T>G	ENSP00000494321.1:p.Ser1179Ala
ENST00000645004.1:n.608T>G
ENST00000645076.1:c.2668T>G
ENST00000645417.1:c.635T>G
ENST00000645744.1:c.*1733T>G	ENSP00000494564.1:n.*1733T>G
ENST00000645760.1:c.3744T>G
ENST00000645884.1:c.*606T>G	ENSP00000495516.1:n.*606T>G
ENST00000646003.1:c.*1425T>G	ENSP00000495259.1:n.*1425T>G
ENST00000646207.1:c.*1936T>G	ENSP00000495025.1:n.*1936T>G
ENST00000646276.1:c.*1742T>G	ENSP00000496070.1:n.*1742T>G
ENST00000646592.1:c.2775T>G
ENST00000646902.1:c.3466T>G	ENSP00000494101.1:p.Ser1156Ala
ENST00000646993.1:c.*1865T>G	ENSP00000493720.1:n.*1865T>G
ENST00000647013.1:c.3475T>G	ENSP00000496741.1:n.3475T>G
ENST00000647015.1:c.3220T>G	ENSP00000495389.1:p.Ser1074Ala
ENST00000647086.1:c.*3199T>G	ENSP00000493677.1:n.*3199T>G
ENST00000647158.1:c.*1610T>G	ENSP00000495744.1:n.*1610T>G
ENST00000302539.8:c.3472T>G	ENSP00000303960.4:p.Ser1158Ala
ENST00000389817.7:c.3469T>G	ENSP00000374467.3:p.Ser1157Ala
ENST00000524561.1:n.601T>G
ENST00000527905.5:c.*345T>G	ENSP00000431653.1:n.*345T>G
NM_000352.4:c.3469T>G	NP_000343.2:p.Ser1157Ala
NM_001287174.1:c.3472T>G	NP_001274103.1:p.Ser1158Ala
XM_011520331.1:c.3469T>G	XP_011518633.1:p.Ser1157Ala
XM_011520332.1:c.3472T>G	XP_011518634.1:p.Ser1158Ala
XM_011520333.1:c.1969T>G	XP_011518635.1:p.Ser657Ala
XR_930890.1:n.3535T>G
XR_930892.1:n.3435T>G
XR_930893.1:n.3432T>G
NM_001351295.1:c.3535T>G	NP_001338224.1:p.Ser1179Ala
NM_001351296.1:c.3469T>G	NP_001338225.1:p.Ser1157Ala
NM_001351297.1:c.3466T>G	NP_001338226.1:p.Ser1156Ala
NR_147094.1:n.3618T>G
XM_017018197.2:c.3538T>G	XP_016873686.1:p.Ser1180Ala
XM_017018199.1:c.3535T>G	XP_016873688.1:p.Ser1179Ala
XM_017018201.2:c.3538T>G	XP_016873690.1:p.Ser1180Ala
XM_017018202.1:c.2035T>G	XP_016873691.1:p.Ser679Ala
XM_017018204.1:c.1426T>G	XP_016873693.1:p.Ser476Ala
XM_024448668.1:c.1837T>G	XP_024304436.1:p.Ser613Ala
XR_001747945.2:n.3610T>G
XR_001747946.2:n.3541T>G
XR_002957189.1:n.3690T>G
NM_000352.6:c.3469T>G MANE Select	NP_000343.2:p.Ser1157Ala
NM_001287174.2:c.3472T>G	NP_001274103.1:p.Ser1158Ala
NM_001351295.2:c.3535T>G	NP_001338224.1:p.Ser1179Ala
NM_001351296.2:c.3469T>G	NP_001338225.1:p.Ser1157Ala
NM_001351297.2:c.3466T>G	NP_001338226.1:p.Ser1156Ala
NR_147094.2:n.3618T>G
NM_001287174.3:c.3472T>G	NP_001274103.1:p.Ser1158Ala