Canonical Allele Identifier: CA379780667

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17414560G>C (hg19) ; chr11:g.17393013G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17393013G>C , CM000673.2:g.17393013G>C	GRCh38
NC_000011.9:g.17414560G>C , CM000673.1:g.17414560G>C	GRCh37
NC_000011.8:g.17371136G>C	NCBI36
NG_008867.1:g.88890C>G
NG_012446.1:g.647C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.4325C>G
ENST00000526037.6:n.659C>G
ENST00000528374.2:c.1315C>G
ENST00000529967.6:n.3063C>G
ENST00000532220.2:n.3957C>G
ENST00000642611.2:n.6057C>G
ENST00000644057.2:n.1300C>G
ENST00000645004.2:n.2223C>G
ENST00000682051.1:n.4886C>G
ENST00000682110.1:n.4939C>G
ENST00000682140.1:c.*510C>G	ENSP00000507829.1:n.*510C>G
ENST00000682185.1:n.6029C>G
ENST00000682204.1:c.*2862C>G	ENSP00000507094.1:n.*2862C>G
ENST00000682215.1:n.5306C>G
ENST00000682288.1:c.*3155C>G	ENSP00000507506.1:n.*3155C>G
ENST00000682442.1:n.5159C>G
ENST00000682528.1:n.5016C>G
ENST00000682673.1:n.4883C>G
ENST00000682805.1:n.5344C>G
ENST00000682965.1:c.*1146C>G	ENSP00000508229.1:n.*1146C>G
ENST00000683093.1:n.5919C>G
ENST00000683136.1:c.4607C>G	ENSP00000507768.1:p.Ser1536Cys
ENST00000683153.1:n.4981C>G
ENST00000683365.1:n.5041C>G
ENST00000683377.1:n.4835C>G
ENST00000683456.1:c.*1861C>G	ENSP00000508318.1:n.*1861C>G
ENST00000683522.1:n.5021C>G
ENST00000683562.1:c.*2789C>G	ENSP00000508265.1:n.*2789C>G
ENST00000683693.1:n.6400C>G
ENST00000683725.1:c.*189C>G	ENSP00000507496.1:n.*189C>G
ENST00000684010.1:n.4934C>G
ENST00000684014.1:n.911C>G
ENST00000684157.1:n.5924C>G
ENST00000684253.1:n.4842C>G
ENST00000684288.1:c.*2896C>G	ENSP00000507143.1:n.*2896C>G
ENST00000684313.1:n.4371C>G
ENST00000684332.1:n.5012C>G
ENST00000684371.1:n.5045C>G
ENST00000684404.1:n.5967C>G
ENST00000684442.1:n.5163C>G
ENST00000684555.1:c.*2936C>G	ENSP00000507705.1:n.*2936C>G
ENST00000684571.1:c.4565C>G	ENSP00000506935.1:p.Ser1522Cys
ENST00000684593.1:c.*4429C>G	ENSP00000507005.1:n.*4429C>G
ENST00000684711.1:c.*3120C>G	ENSP00000506841.1:n.*3120C>G
ENST00000302539.9:c.4727C>G	ENSP00000303960.4:p.Ser1576Cys
ENST00000389817.8:c.4724C>G MANE Select	ENSP00000374467.4:p.Ser1575Cys
ENST00000642271.1:c.4721C>G	ENSP00000493749.1:p.Ser1574Cys
ENST00000642579.1:c.2778C>G
ENST00000642611.1:n.5942C>G
ENST00000642902.1:c.4506C>G
ENST00000643260.1:c.4724C>G	ENSP00000494450.1:p.Ser1575Cys
ENST00000643562.1:c.*2846C>G	ENSP00000496124.1:n.*2846C>G
ENST00000643925.1:c.3301C>G
ENST00000644057.1:n.883C>G
ENST00000644484.1:c.*4110C>G	ENSP00000493558.1:n.*4110C>G
ENST00000644675.1:c.*2896C>G	ENSP00000494567.1:n.*2896C>G
ENST00000644757.1:c.*3203-33C>G	ENSP00000495085.1:n.*3203-33C>G
ENST00000644772.1:c.4790C>G	ENSP00000494321.1:p.Ser1597Cys
ENST00000645004.1:n.2417C>G
ENST00000645076.1:c.3819C>G
ENST00000645760.1:c.5145C>G
ENST00000645884.1:c.*2007C>G	ENSP00000495516.1:n.*2007C>G
ENST00000646003.1:c.*2746C>G	ENSP00000495259.1:n.*2746C>G
ENST00000646207.1:c.*3561C>G	ENSP00000495025.1:n.*3561C>G
ENST00000646592.1:c.4030C>G
ENST00000646902.1:c.4691C>G	ENSP00000494101.1:p.Ser1564Cys
ENST00000646993.1:c.*3162C>G	ENSP00000493720.1:n.*3162C>G
ENST00000647015.1:c.4475C>G	ENSP00000495389.1:p.Ser1492Cys
ENST00000647086.1:c.*4310C>G	ENSP00000493677.1:n.*4310C>G
ENST00000302539.8:c.4727C>G	ENSP00000303960.4:p.Ser1576Cys
ENST00000389817.7:c.4724C>G	ENSP00000374467.3:p.Ser1575Cys
ENST00000526037.5:n.484C>G
ENST00000526168.5:c.512C>G
ENST00000531642.5:c.755C>G
NM_000352.4:c.4724C>G	NP_000343.2:p.Ser1575Cys
NM_001287174.1:c.4727C>G	NP_001274103.1:p.Ser1576Cys
XM_011520331.1:c.4724C>G	XP_011518633.1:p.Ser1575Cys
XM_011520333.1:c.3224C>G	XP_011518635.1:p.Ser1075Cys
XR_930890.1:n.4686C>G
NM_001351295.1:c.4790C>G	NP_001338224.1:p.Ser1597Cys
NM_001351296.1:c.4724C>G	NP_001338225.1:p.Ser1575Cys
NM_001351297.1:c.4721C>G	NP_001338226.1:p.Ser1574Cys
NR_147094.1:n.5019C>G
XM_017018197.2:c.4793C>G	XP_016873686.1:p.Ser1598Cys
XM_017018199.1:c.4790C>G	XP_016873688.1:p.Ser1597Cys
XM_017018202.1:c.3290C>G	XP_016873691.1:p.Ser1097Cys
XM_017018204.1:c.2681C>G	XP_016873693.1:p.Ser894Cys
XM_024448668.1:c.3092C>G	XP_024304436.1:p.Ser1031Cys
XR_001747945.2:n.4761C>G
XR_001747946.2:n.4692C>G
XR_002957189.1:n.6475C>G
NM_000352.6:c.4724C>G MANE Select	NP_000343.2:p.Ser1575Cys
NM_001287174.2:c.4727C>G	NP_001274103.1:p.Ser1576Cys
NM_001351295.2:c.4790C>G	NP_001338224.1:p.Ser1597Cys
NM_001351296.2:c.4724C>G	NP_001338225.1:p.Ser1575Cys
NM_001351297.2:c.4721C>G	NP_001338226.1:p.Ser1574Cys
NR_147094.2:n.5019C>G
NM_001287174.3:c.4727C>G	NP_001274103.1:p.Ser1576Cys