Canonical Allele Identifier: CA379790288

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17396936-G-C
• MyVariant Identifiers: chr11:g.17418483G>C (hg19) ; chr11:g.17396936G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17396936G>C , CM000673.2:g.17396936G>C	GRCh38
NC_000011.9:g.17418483G>C , CM000673.1:g.17418483G>C	GRCh37
NC_000011.8:g.17375059G>C	NCBI36
NG_008867.1:g.84967C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.3700C>G
ENST00000528374.2:c.690C>G
ENST00000529967.6:n.2438C>G
ENST00000532220.2:n.2347C>G
ENST00000642611.2:n.4314C>G
ENST00000644057.2:n.542C>G
ENST00000645004.2:n.1598C>G
ENST00000682051.1:n.4261C>G
ENST00000682110.1:n.4314C>G
ENST00000682140.1:c.3985+257C>G	ENSP00000507829.1:n.3985+257C>G
ENST00000682185.1:n.5404C>G
ENST00000682204.1:c.*2237C>G	ENSP00000507094.1:n.*2237C>G
ENST00000682215.1:n.4681C>G
ENST00000682288.1:c.*2530C>G	ENSP00000507506.1:n.*2530C>G
ENST00000682442.1:n.4534C>G
ENST00000682528.1:n.4391C>G
ENST00000682673.1:n.4258C>G
ENST00000682805.1:n.4681C>G
ENST00000682965.1:c.*521C>G	ENSP00000508229.1:n.*521C>G
ENST00000683093.1:n.4413C>G
ENST00000683136.1:c.3982C>G	ENSP00000507768.1:p.Leu1328Val
ENST00000683153.1:n.4356C>G
ENST00000683365.1:n.4416C>G
ENST00000683377.1:n.4314C>G
ENST00000683456.1:c.*1236C>G	ENSP00000508318.1:n.*1236C>G
ENST00000683522.1:n.4314C>G
ENST00000683562.1:c.*2268C>G	ENSP00000508265.1:n.*2268C>G
ENST00000683693.1:n.4761C>G
ENST00000683725.1:c.4099C>G	ENSP00000507496.1:p.Leu1367Val
ENST00000684010.1:n.4309C>G
ENST00000684157.1:n.4314C>G
ENST00000684253.1:n.4217C>G
ENST00000684288.1:c.*2271C>G	ENSP00000507143.1:n.*2271C>G
ENST00000684313.1:n.3746C>G
ENST00000684332.1:n.4387C>G
ENST00000684371.1:n.4420C>G
ENST00000684404.1:n.4357C>G
ENST00000684442.1:n.4538C>G
ENST00000684555.1:c.*2311C>G	ENSP00000507705.1:n.*2311C>G
ENST00000684571.1:c.3940C>G	ENSP00000506935.1:p.Leu1314Val
ENST00000684593.1:c.*3804C>G	ENSP00000507005.1:n.*3804C>G
ENST00000684711.1:c.*2495C>G	ENSP00000506841.1:n.*2495C>G
ENST00000302539.9:c.4102C>G	ENSP00000303960.4:p.Leu1368Val
ENST00000389817.8:c.4099C>G MANE Select	ENSP00000374467.4:p.Leu1367Val
ENST00000642271.1:c.4096C>G	ENSP00000493749.1:p.Leu1366Val
ENST00000642579.1:c.2153C>G
ENST00000642611.1:n.4199C>G
ENST00000642902.1:c.3881C>G
ENST00000643260.1:c.4099C>G	ENSP00000494450.1:p.Leu1367Val
ENST00000643562.1:c.*2221C>G	ENSP00000496124.1:n.*2221C>G
ENST00000643925.1:c.2739C>G
ENST00000644057.1:n.176C>G
ENST00000644484.1:c.*2500C>G	ENSP00000493558.1:n.*2500C>G
ENST00000644675.1:c.*2271C>G	ENSP00000494567.1:n.*2271C>G
ENST00000644757.1:c.*2530C>G	ENSP00000495085.1:n.*2530C>G
ENST00000644772.1:c.4165C>G	ENSP00000494321.1:p.Leu1389Val
ENST00000645004.1:n.1754C>G
ENST00000645076.1:c.3298C>G
ENST00000645417.1:c.1287C>G
ENST00000645744.1:c.*2879C>G	ENSP00000494564.1:n.*2879C>G
ENST00000645760.1:c.4520C>G
ENST00000645884.1:c.*1382C>G	ENSP00000495516.1:n.*1382C>G
ENST00000646003.1:c.*2201C>G	ENSP00000495259.1:n.*2201C>G
ENST00000646207.1:c.*2936C>G	ENSP00000495025.1:n.*2936C>G
ENST00000646276.1:c.*2518C>G	ENSP00000496070.1:n.*2518C>G
ENST00000646592.1:c.3405C>G
ENST00000646902.1:c.4066C>G	ENSP00000494101.1:p.Leu1356Val
ENST00000646993.1:c.*2641C>G	ENSP00000493720.1:n.*2641C>G
ENST00000647013.1:c.4105C>G	ENSP00000496741.1:n.4105C>G
ENST00000647015.1:c.3850C>G	ENSP00000495389.1:p.Leu1284Val
ENST00000647086.1:c.*3685C>G	ENSP00000493677.1:n.*3685C>G
ENST00000647158.1:c.*2386C>G	ENSP00000495744.1:n.*2386C>G
ENST00000302539.8:c.4102C>G	ENSP00000303960.4:p.Leu1368Val
ENST00000389817.7:c.4099C>G	ENSP00000374467.3:p.Leu1367Val
ENST00000527905.5:c.*1121C>G	ENSP00000431653.1:n.*1121C>G
ENST00000528374.1:c.581C>G
ENST00000531137.1:n.664C>G
ENST00000531891.1:c.437C>G
ENST00000532220.1:n.573C>G
NM_000352.4:c.4099C>G	NP_000343.2:p.Leu1367Val
NM_001287174.1:c.4102C>G	NP_001274103.1:p.Leu1368Val
XM_011520331.1:c.4099C>G	XP_011518633.1:p.Leu1367Val
XM_011520332.1:c.4102C>G	XP_011518634.1:p.Leu1368Val
XM_011520333.1:c.2599C>G	XP_011518635.1:p.Leu867Val
XR_930890.1:n.4165C>G
NM_001351295.1:c.4165C>G	NP_001338224.1:p.Leu1389Val
NM_001351296.1:c.4099C>G	NP_001338225.1:p.Leu1367Val
NM_001351297.1:c.4096C>G	NP_001338226.1:p.Leu1366Val
NR_147094.1:n.4394C>G
XM_017018197.2:c.4168C>G	XP_016873686.1:p.Leu1390Val
XM_017018199.1:c.4165C>G	XP_016873688.1:p.Leu1389Val
XM_017018201.2:c.4168C>G	XP_016873690.1:p.Leu1390Val
XM_017018202.1:c.2665C>G	XP_016873691.1:p.Leu889Val
XM_017018204.1:c.2056C>G	XP_016873693.1:p.Leu686Val
XM_024448668.1:c.2467C>G	XP_024304436.1:p.Leu823Val
XR_001747945.2:n.4240C>G
XR_001747946.2:n.4171C>G
XR_002957189.1:n.4836C>G
NM_000352.6:c.4099C>G MANE Select	NP_000343.2:p.Leu1367Val
NM_001287174.2:c.4102C>G	NP_001274103.1:p.Leu1368Val
NM_001351295.2:c.4165C>G	NP_001338224.1:p.Leu1389Val
NM_001351296.2:c.4099C>G	NP_001338225.1:p.Leu1367Val
NM_001351297.2:c.4096C>G	NP_001338226.1:p.Leu1366Val
NR_147094.2:n.4394C>G
NM_001287174.3:c.4102C>G	NP_001274103.1:p.Leu1368Val