Canonical Allele Identifier: CA379797671

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17426093A>T (hg19) ; chr11:g.17404546A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17404546A>T , CM000673.2:g.17404546A>T	GRCh38
NC_000011.9:g.17426093A>T , CM000673.1:g.17426093A>T	GRCh37
NC_000011.8:g.17382669A>T	NCBI36
NG_008867.1:g.77357T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.3092T>A
ENST00000528374.2:c.102T>A
ENST00000529967.6:n.1862T>A
ENST00000532220.2:n.1255T>A
ENST00000642611.2:n.3592T>A
ENST00000645004.2:n.1022T>A
ENST00000682051.1:n.3539T>A
ENST00000682110.1:n.3592T>A
ENST00000682140.1:c.3520T>A	ENSP00000507829.1:p.Tyr1174Asn
ENST00000682185.1:n.4828T>A
ENST00000682204.1:c.*1661T>A	ENSP00000507094.1:n.*1661T>A
ENST00000682215.1:n.3589T>A
ENST00000682288.1:c.*1954T>A	ENSP00000507506.1:n.*1954T>A
ENST00000682442.1:n.3812T>A
ENST00000682528.1:n.3669T>A
ENST00000682673.1:n.3536T>A
ENST00000682805.1:n.3589T>A
ENST00000682965.1:c.3396+948T>A	ENSP00000508229.1:n.3396+948T>A
ENST00000683093.1:n.3691T>A
ENST00000683136.1:c.3520T>A	ENSP00000507768.1:p.Tyr1174Asn
ENST00000683153.1:n.3748T>A
ENST00000683365.1:n.3694T>A
ENST00000683377.1:n.3592T>A
ENST00000683456.1:c.*660T>A	ENSP00000508318.1:n.*660T>A
ENST00000683522.1:n.3592T>A
ENST00000683562.1:c.*1692T>A	ENSP00000508265.1:n.*1692T>A
ENST00000683693.1:n.3669T>A
ENST00000683725.1:c.3523T>A	ENSP00000507496.1:p.Tyr1175Asn
ENST00000684010.1:n.3587T>A
ENST00000684157.1:n.3592T>A
ENST00000684253.1:n.3495T>A
ENST00000684288.1:c.*1695T>A	ENSP00000507143.1:n.*1695T>A
ENST00000684313.1:n.3024T>A
ENST00000684332.1:n.3665T>A
ENST00000684371.1:n.3698T>A
ENST00000684404.1:n.3635T>A
ENST00000684442.1:n.3592T>A
ENST00000684555.1:c.*1735T>A	ENSP00000507705.1:n.*1735T>A
ENST00000684571.1:c.3364T>A	ENSP00000506935.1:p.Tyr1122Asn
ENST00000684593.1:c.*3228T>A	ENSP00000507005.1:n.*3228T>A
ENST00000684711.1:c.*1919T>A	ENSP00000506841.1:n.*1919T>A
ENST00000302539.9:c.3526T>A	ENSP00000303960.4:p.Tyr1176Asn
ENST00000389817.8:c.3523T>A MANE Select	ENSP00000374467.4:p.Tyr1175Asn
ENST00000642271.1:c.3520T>A	ENSP00000493749.1:p.Tyr1174Asn
ENST00000642579.1:c.1607T>A
ENST00000642611.1:n.3477T>A
ENST00000642902.1:c.3305T>A
ENST00000643260.1:c.3523T>A	ENSP00000494450.1:p.Tyr1175Asn
ENST00000643562.1:c.*1499T>A	ENSP00000496124.1:n.*1499T>A
ENST00000643925.1:c.1647T>A
ENST00000644447.1:c.1879T>A	ENSP00000496282.1:p.Tyr627Asn
ENST00000644484.1:c.*1778T>A	ENSP00000493558.1:n.*1778T>A
ENST00000644675.1:c.*1695T>A	ENSP00000494567.1:n.*1695T>A
ENST00000644757.1:c.*1808T>A	ENSP00000495085.1:n.*1808T>A
ENST00000644772.1:c.3589T>A	ENSP00000494321.1:p.Tyr1197Asn
ENST00000645004.1:n.662T>A
ENST00000645076.1:c.2722T>A
ENST00000645417.1:c.689T>A
ENST00000645744.1:c.*1787T>A	ENSP00000494564.1:n.*1787T>A
ENST00000645760.1:c.3798T>A
ENST00000645884.1:c.*660T>A	ENSP00000495516.1:n.*660T>A
ENST00000646003.1:c.*1479T>A	ENSP00000495259.1:n.*1479T>A
ENST00000646207.1:c.*1990T>A	ENSP00000495025.1:n.*1990T>A
ENST00000646276.1:c.*1796T>A	ENSP00000496070.1:n.*1796T>A
ENST00000646592.1:c.2829T>A
ENST00000646902.1:c.3520T>A	ENSP00000494101.1:p.Tyr1174Asn
ENST00000646993.1:c.*1919T>A	ENSP00000493720.1:n.*1919T>A
ENST00000647013.1:c.3529T>A	ENSP00000496741.1:n.3529T>A
ENST00000647015.1:c.3274T>A	ENSP00000495389.1:p.Tyr1092Asn
ENST00000647086.1:c.*3253T>A	ENSP00000493677.1:n.*3253T>A
ENST00000647158.1:c.*1664T>A	ENSP00000495744.1:n.*1664T>A
ENST00000302539.8:c.3526T>A	ENSP00000303960.4:p.Tyr1176Asn
ENST00000389817.7:c.3523T>A	ENSP00000374467.3:p.Tyr1175Asn
ENST00000524561.1:n.655T>A
ENST00000527905.5:c.*399T>A	ENSP00000431653.1:n.*399T>A
ENST00000531137.1:n.16T>A
NM_000352.4:c.3523T>A	NP_000343.2:p.Tyr1175Asn
NM_001287174.1:c.3526T>A	NP_001274103.1:p.Tyr1176Asn
XM_011520331.1:c.3523T>A	XP_011518633.1:p.Tyr1175Asn
XM_011520332.1:c.3526T>A	XP_011518634.1:p.Tyr1176Asn
XM_011520333.1:c.2023T>A	XP_011518635.1:p.Tyr675Asn
XR_930890.1:n.3589T>A
XR_930892.1:n.3489T>A
XR_930893.1:n.3486T>A
NM_001351295.1:c.3589T>A	NP_001338224.1:p.Tyr1197Asn
NM_001351296.1:c.3523T>A	NP_001338225.1:p.Tyr1175Asn
NM_001351297.1:c.3520T>A	NP_001338226.1:p.Tyr1174Asn
NR_147094.1:n.3672T>A
XM_017018197.2:c.3592T>A	XP_016873686.1:p.Tyr1198Asn
XM_017018199.1:c.3589T>A	XP_016873688.1:p.Tyr1197Asn
XM_017018201.2:c.3592T>A	XP_016873690.1:p.Tyr1198Asn
XM_017018202.1:c.2089T>A	XP_016873691.1:p.Tyr697Asn
XM_017018204.1:c.1480T>A	XP_016873693.1:p.Tyr494Asn
XM_024448668.1:c.1891T>A	XP_024304436.1:p.Tyr631Asn
XR_001747945.2:n.3664T>A
XR_001747946.2:n.3595T>A
XR_002957189.1:n.3744T>A
NM_000352.6:c.3523T>A MANE Select	NP_000343.2:p.Tyr1175Asn
NM_001287174.2:c.3526T>A	NP_001274103.1:p.Tyr1176Asn
NM_001351295.2:c.3589T>A	NP_001338224.1:p.Tyr1197Asn
NM_001351296.2:c.3523T>A	NP_001338225.1:p.Tyr1175Asn
NM_001351297.2:c.3520T>A	NP_001338226.1:p.Tyr1174Asn
NR_147094.2:n.3672T>A
NM_001287174.3:c.3526T>A	NP_001274103.1:p.Tyr1176Asn