Canonical Allele Identifier: CA379798326

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17426165A>C (hg19) ; chr11:g.17404618A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17404618A>C , CM000673.2:g.17404618A>C	GRCh38
NC_000011.9:g.17426165A>C , CM000673.1:g.17426165A>C	GRCh37
NC_000011.8:g.17382741A>C	NCBI36
NG_008867.1:g.77285T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3020T>G
ENST00000528374.2:c.30T>G
ENST00000529967.6:n.1790T>G
ENST00000532220.2:n.1183T>G
ENST00000642611.2:n.3520T>G
ENST00000645004.2:n.950T>G
ENST00000682051.1:n.3467T>G
ENST00000682110.1:n.3520T>G
ENST00000682140.1:c.3448T>G	ENSP00000507829.1:p.Ser1150Ala
ENST00000682185.1:n.4756T>G
ENST00000682204.1:c.*1589T>G	ENSP00000507094.1:n.*1589T>G
ENST00000682215.1:n.3517T>G
ENST00000682288.1:c.*1882T>G	ENSP00000507506.1:n.*1882T>G
ENST00000682442.1:n.3740T>G
ENST00000682528.1:n.3597T>G
ENST00000682673.1:n.3464T>G
ENST00000682805.1:n.3517T>G
ENST00000682965.1:c.3396+876T>G	ENSP00000508229.1:n.3396+876T>G
ENST00000683093.1:n.3619T>G
ENST00000683136.1:c.3448T>G	ENSP00000507768.1:p.Ser1150Ala
ENST00000683153.1:n.3676T>G
ENST00000683365.1:n.3622T>G
ENST00000683377.1:n.3520T>G
ENST00000683456.1:c.*588T>G	ENSP00000508318.1:n.*588T>G
ENST00000683522.1:n.3520T>G
ENST00000683562.1:c.*1620T>G	ENSP00000508265.1:n.*1620T>G
ENST00000683693.1:n.3597T>G
ENST00000683725.1:c.3451T>G	ENSP00000507496.1:p.Ser1151Ala
ENST00000684010.1:n.3515T>G
ENST00000684157.1:n.3520T>G
ENST00000684253.1:n.3423T>G
ENST00000684288.1:c.*1623T>G	ENSP00000507143.1:n.*1623T>G
ENST00000684313.1:n.2952T>G
ENST00000684332.1:n.3593T>G
ENST00000684371.1:n.3626T>G
ENST00000684404.1:n.3563T>G
ENST00000684442.1:n.3520T>G
ENST00000684555.1:c.*1663T>G	ENSP00000507705.1:n.*1663T>G
ENST00000684571.1:c.3292T>G	ENSP00000506935.1:p.Ser1098Ala
ENST00000684593.1:c.*3156T>G	ENSP00000507005.1:n.*3156T>G
ENST00000684711.1:c.*1847T>G	ENSP00000506841.1:n.*1847T>G
ENST00000302539.9:c.3454T>G	ENSP00000303960.4:p.Ser1152Ala
ENST00000389817.8:c.3451T>G MANE Select	ENSP00000374467.4:p.Ser1151Ala
ENST00000642271.1:c.3448T>G	ENSP00000493749.1:p.Ser1150Ala
ENST00000642579.1:c.1535T>G
ENST00000642611.1:n.3405T>G
ENST00000642902.1:c.3233T>G
ENST00000643260.1:c.3451T>G	ENSP00000494450.1:p.Ser1151Ala
ENST00000643562.1:c.*1427T>G	ENSP00000496124.1:n.*1427T>G
ENST00000643925.1:c.1575T>G
ENST00000644447.1:c.1807T>G	ENSP00000496282.1:p.Ser603Ala
ENST00000644484.1:c.*1706T>G	ENSP00000493558.1:n.*1706T>G
ENST00000644675.1:c.*1623T>G	ENSP00000494567.1:n.*1623T>G
ENST00000644757.1:c.*1736T>G	ENSP00000495085.1:n.*1736T>G
ENST00000644772.1:c.3517T>G	ENSP00000494321.1:p.Ser1173Ala
ENST00000645004.1:n.590T>G
ENST00000645076.1:c.2650T>G
ENST00000645417.1:c.617T>G
ENST00000645744.1:c.*1715T>G	ENSP00000494564.1:n.*1715T>G
ENST00000645760.1:c.3726T>G
ENST00000645884.1:c.*588T>G	ENSP00000495516.1:n.*588T>G
ENST00000646003.1:c.*1407T>G	ENSP00000495259.1:n.*1407T>G
ENST00000646207.1:c.*1918T>G	ENSP00000495025.1:n.*1918T>G
ENST00000646276.1:c.*1724T>G	ENSP00000496070.1:n.*1724T>G
ENST00000646592.1:c.2757T>G
ENST00000646902.1:c.3448T>G	ENSP00000494101.1:p.Ser1150Ala
ENST00000646993.1:c.*1847T>G	ENSP00000493720.1:n.*1847T>G
ENST00000647013.1:c.3457T>G	ENSP00000496741.1:n.3457T>G
ENST00000647015.1:c.3202T>G	ENSP00000495389.1:p.Ser1068Ala
ENST00000647086.1:c.*3181T>G	ENSP00000493677.1:n.*3181T>G
ENST00000647158.1:c.*1592T>G	ENSP00000495744.1:n.*1592T>G
ENST00000302539.8:c.3454T>G	ENSP00000303960.4:p.Ser1152Ala
ENST00000389817.7:c.3451T>G	ENSP00000374467.3:p.Ser1151Ala
ENST00000524561.1:n.583T>G
ENST00000527905.5:c.*327T>G	ENSP00000431653.1:n.*327T>G
NM_000352.4:c.3451T>G	NP_000343.2:p.Ser1151Ala
NM_001287174.1:c.3454T>G	NP_001274103.1:p.Ser1152Ala
XM_011520331.1:c.3451T>G	XP_011518633.1:p.Ser1151Ala
XM_011520332.1:c.3454T>G	XP_011518634.1:p.Ser1152Ala
XM_011520333.1:c.1951T>G	XP_011518635.1:p.Ser651Ala
XR_930890.1:n.3517T>G
XR_930892.1:n.3417T>G
XR_930893.1:n.3414T>G
NM_001351295.1:c.3517T>G	NP_001338224.1:p.Ser1173Ala
NM_001351296.1:c.3451T>G	NP_001338225.1:p.Ser1151Ala
NM_001351297.1:c.3448T>G	NP_001338226.1:p.Ser1150Ala
NR_147094.1:n.3600T>G
XM_017018197.2:c.3520T>G	XP_016873686.1:p.Ser1174Ala
XM_017018199.1:c.3517T>G	XP_016873688.1:p.Ser1173Ala
XM_017018201.2:c.3520T>G	XP_016873690.1:p.Ser1174Ala
XM_017018202.1:c.2017T>G	XP_016873691.1:p.Ser673Ala
XM_017018204.1:c.1408T>G	XP_016873693.1:p.Ser470Ala
XM_024448668.1:c.1819T>G	XP_024304436.1:p.Ser607Ala
XR_001747945.2:n.3592T>G
XR_001747946.2:n.3523T>G
XR_002957189.1:n.3672T>G
NM_000352.6:c.3451T>G MANE Select	NP_000343.2:p.Ser1151Ala
NM_001287174.2:c.3454T>G	NP_001274103.1:p.Ser1152Ala
NM_001351295.2:c.3517T>G	NP_001338224.1:p.Ser1173Ala
NM_001351296.2:c.3451T>G	NP_001338225.1:p.Ser1151Ala
NM_001351297.2:c.3448T>G	NP_001338226.1:p.Ser1150Ala
NR_147094.2:n.3600T>G
NM_001287174.3:c.3454T>G	NP_001274103.1:p.Ser1152Ala