Canonical Allele Identifier: CA379785475

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17395225-G-C
• MyVariant Identifiers: chr11:g.17416772G>C (hg19) ; chr11:g.17395225G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395225G>C , CM000673.2:g.17395225G>C	GRCh38
NC_000011.9:g.17416772G>C , CM000673.1:g.17416772G>C	GRCh37
NC_000011.8:g.17373348G>C	NCBI36
NG_008867.1:g.86678C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3959C>G
ENST00000526037.6:n.293C>G
ENST00000528374.2:c.949C>G
ENST00000529967.6:n.2697C>G
ENST00000532220.2:n.3591C>G
ENST00000642611.2:n.5691C>G
ENST00000644057.2:n.934C>G
ENST00000645004.2:n.1857C>G
ENST00000682051.1:n.4520C>G
ENST00000682110.1:n.4573C>G
ENST00000682140.1:c.*144C>G	ENSP00000507829.1:n.*144C>G
ENST00000682185.1:n.5663C>G
ENST00000682204.1:c.*2496C>G	ENSP00000507094.1:n.*2496C>G
ENST00000682215.1:n.4940C>G
ENST00000682288.1:c.*2789C>G	ENSP00000507506.1:n.*2789C>G
ENST00000682442.1:n.4793C>G
ENST00000682528.1:n.4650C>G
ENST00000682673.1:n.4517C>G
ENST00000682805.1:n.4978C>G
ENST00000682965.1:c.*780C>G	ENSP00000508229.1:n.*780C>G
ENST00000683093.1:n.5606+385C>G
ENST00000683136.1:c.4241C>G	ENSP00000507768.1:p.Ala1414Gly
ENST00000683153.1:n.4615C>G
ENST00000683365.1:n.4675C>G
ENST00000683377.1:n.4522+385C>G
ENST00000683456.1:c.*1495C>G	ENSP00000508318.1:n.*1495C>G
ENST00000683522.1:n.4573C>G
ENST00000683562.1:c.*2476+385C>G	ENSP00000508265.1:n.*2476+385C>G
ENST00000683693.1:n.6087+385C>G
ENST00000683725.1:c.4307+385C>G	ENSP00000507496.1:n.4307+385C>G
ENST00000684010.1:n.4568C>G
ENST00000684157.1:n.5558C>G
ENST00000684253.1:n.4476C>G
ENST00000684288.1:c.*2530C>G	ENSP00000507143.1:n.*2530C>G
ENST00000684313.1:n.4005C>G
ENST00000684332.1:n.4646C>G
ENST00000684371.1:n.4679C>G
ENST00000684404.1:n.5601C>G
ENST00000684442.1:n.4797C>G
ENST00000684555.1:c.*2570C>G	ENSP00000507705.1:n.*2570C>G
ENST00000684571.1:c.4199C>G	ENSP00000506935.1:p.Ala1400Gly
ENST00000684593.1:c.*4063C>G	ENSP00000507005.1:n.*4063C>G
ENST00000684711.1:c.*2754C>G	ENSP00000506841.1:n.*2754C>G
ENST00000302539.9:c.4361C>G	ENSP00000303960.4:p.Ala1454Gly
ENST00000389817.8:c.4358C>G MANE Select	ENSP00000374467.4:p.Ala1453Gly
ENST00000642271.1:c.4355C>G	ENSP00000493749.1:p.Ala1452Gly
ENST00000642579.1:c.2412C>G
ENST00000642611.1:n.5576C>G
ENST00000642902.1:c.4140C>G
ENST00000643260.1:c.4358C>G	ENSP00000494450.1:p.Ala1453Gly
ENST00000643562.1:c.*2480C>G	ENSP00000496124.1:n.*2480C>G
ENST00000643925.1:c.2998C>G
ENST00000644057.1:n.435C>G
ENST00000644484.1:c.*3744C>G	ENSP00000493558.1:n.*3744C>G
ENST00000644675.1:c.*2530C>G	ENSP00000494567.1:n.*2530C>G
ENST00000644757.1:c.*3202+1039C>G	ENSP00000495085.1:n.*3202+1039C>G
ENST00000644772.1:c.4424C>G	ENSP00000494321.1:p.Ala1475Gly
ENST00000645004.1:n.2051C>G
ENST00000645076.1:c.3506+385C>G
ENST00000645417.1:c.1546C>G
ENST00000645744.1:c.*4043C>G	ENSP00000494564.1:n.*4043C>G
ENST00000645760.1:c.4779C>G
ENST00000645884.1:c.*1641C>G	ENSP00000495516.1:n.*1641C>G
ENST00000646003.1:c.*2380C>G	ENSP00000495259.1:n.*2380C>G
ENST00000646207.1:c.*3195C>G	ENSP00000495025.1:n.*3195C>G
ENST00000646276.1:c.*3762C>G	ENSP00000496070.1:n.*3762C>G
ENST00000646592.1:c.3664C>G
ENST00000646902.1:c.4325C>G	ENSP00000494101.1:p.Ala1442Gly
ENST00000646993.1:c.*2849+385C>G	ENSP00000493720.1:n.*2849+385C>G
ENST00000647013.1:c.4364C>G	ENSP00000496741.1:n.4364C>G
ENST00000647015.1:c.4109C>G	ENSP00000495389.1:p.Ala1370Gly
ENST00000647086.1:c.*3944C>G	ENSP00000493677.1:n.*3944C>G
ENST00000647158.1:c.*2645C>G	ENSP00000495744.1:n.*2645C>G
ENST00000302539.8:c.4361C>G	ENSP00000303960.4:p.Ala1454Gly
ENST00000389817.7:c.4358C>G	ENSP00000374467.3:p.Ala1453Gly
ENST00000525022.1:n.306+385C>G
ENST00000526037.5:n.171+385C>G
ENST00000526168.5:c.146C>G
ENST00000531642.5:c.389C>G
NM_000352.4:c.4358C>G	NP_000343.2:p.Ala1453Gly
NM_001287174.1:c.4361C>G	NP_001274103.1:p.Ala1454Gly
XM_011520331.1:c.4358C>G	XP_011518633.1:p.Ala1453Gly
XM_011520332.1:c.4310+385C>G	XP_011518634.1:n.4310+385C>G
XM_011520333.1:c.2858C>G	XP_011518635.1:p.Ala953Gly
XR_930890.1:n.4373+385C>G
NM_001351295.1:c.4424C>G	NP_001338224.1:p.Ala1475Gly
NM_001351296.1:c.4358C>G	NP_001338225.1:p.Ala1453Gly
NM_001351297.1:c.4355C>G	NP_001338226.1:p.Ala1452Gly
NR_147094.1:n.4653C>G
XM_017018197.2:c.4427C>G	XP_016873686.1:p.Ala1476Gly
XM_017018199.1:c.4424C>G	XP_016873688.1:p.Ala1475Gly
XM_017018201.2:c.4376+385C>G	XP_016873690.1:n.4376+385C>G
XM_017018202.1:c.2924C>G	XP_016873691.1:p.Ala975Gly
XM_017018204.1:c.2315C>G	XP_016873693.1:p.Ala772Gly
XM_024448668.1:c.2726C>G	XP_024304436.1:p.Ala909Gly
XR_001747945.2:n.4448+385C>G
XR_001747946.2:n.4379+385C>G
XR_002957189.1:n.6162+385C>G
NM_000352.6:c.4358C>G MANE Select	NP_000343.2:p.Ala1453Gly
NM_001287174.2:c.4361C>G	NP_001274103.1:p.Ala1454Gly
NM_001351295.2:c.4424C>G	NP_001338224.1:p.Ala1475Gly
NM_001351296.2:c.4358C>G	NP_001338225.1:p.Ala1453Gly
NM_001351297.2:c.4355C>G	NP_001338226.1:p.Ala1452Gly
NR_147094.2:n.4653C>G
NM_001287174.3:c.4361C>G	NP_001274103.1:p.Ala1454Gly