Canonical Allele Identifier: CA379797844

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17426105C>A (hg19) ; chr11:g.17404558C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17404558C>A , CM000673.2:g.17404558C>A	GRCh38
NC_000011.9:g.17426105C>A , CM000673.1:g.17426105C>A	GRCh37
NC_000011.8:g.17382681C>A	NCBI36
NG_008867.1:g.77345G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3080G>T
ENST00000528374.2:c.90G>T
ENST00000529967.6:n.1850G>T
ENST00000532220.2:n.1243G>T
ENST00000642611.2:n.3580G>T
ENST00000645004.2:n.1010G>T
ENST00000682051.1:n.3527G>T
ENST00000682110.1:n.3580G>T
ENST00000682140.1:c.3508G>T	ENSP00000507829.1:p.Ala1170Ser
ENST00000682185.1:n.4816G>T
ENST00000682204.1:c.*1649G>T	ENSP00000507094.1:n.*1649G>T
ENST00000682215.1:n.3577G>T
ENST00000682288.1:c.*1942G>T	ENSP00000507506.1:n.*1942G>T
ENST00000682442.1:n.3800G>T
ENST00000682528.1:n.3657G>T
ENST00000682673.1:n.3524G>T
ENST00000682805.1:n.3577G>T
ENST00000682965.1:c.3396+936G>T	ENSP00000508229.1:n.3396+936G>T
ENST00000683093.1:n.3679G>T
ENST00000683136.1:c.3508G>T	ENSP00000507768.1:p.Ala1170Ser
ENST00000683153.1:n.3736G>T
ENST00000683365.1:n.3682G>T
ENST00000683377.1:n.3580G>T
ENST00000683456.1:c.*648G>T	ENSP00000508318.1:n.*648G>T
ENST00000683522.1:n.3580G>T
ENST00000683562.1:c.*1680G>T	ENSP00000508265.1:n.*1680G>T
ENST00000683693.1:n.3657G>T
ENST00000683725.1:c.3511G>T	ENSP00000507496.1:p.Ala1171Ser
ENST00000684010.1:n.3575G>T
ENST00000684157.1:n.3580G>T
ENST00000684253.1:n.3483G>T
ENST00000684288.1:c.*1683G>T	ENSP00000507143.1:n.*1683G>T
ENST00000684313.1:n.3012G>T
ENST00000684332.1:n.3653G>T
ENST00000684371.1:n.3686G>T
ENST00000684404.1:n.3623G>T
ENST00000684442.1:n.3580G>T
ENST00000684555.1:c.*1723G>T	ENSP00000507705.1:n.*1723G>T
ENST00000684571.1:c.3352G>T	ENSP00000506935.1:p.Ala1118Ser
ENST00000684593.1:c.*3216G>T	ENSP00000507005.1:n.*3216G>T
ENST00000684711.1:c.*1907G>T	ENSP00000506841.1:n.*1907G>T
ENST00000302539.9:c.3514G>T	ENSP00000303960.4:p.Ala1172Ser
ENST00000389817.8:c.3511G>T MANE Select	ENSP00000374467.4:p.Ala1171Ser
ENST00000642271.1:c.3508G>T	ENSP00000493749.1:p.Ala1170Ser
ENST00000642579.1:c.1595G>T
ENST00000642611.1:n.3465G>T
ENST00000642902.1:c.3293G>T
ENST00000643260.1:c.3511G>T	ENSP00000494450.1:p.Ala1171Ser
ENST00000643562.1:c.*1487G>T	ENSP00000496124.1:n.*1487G>T
ENST00000643925.1:c.1635G>T
ENST00000644447.1:c.1867G>T	ENSP00000496282.1:p.Ala623Ser
ENST00000644484.1:c.*1766G>T	ENSP00000493558.1:n.*1766G>T
ENST00000644675.1:c.*1683G>T	ENSP00000494567.1:n.*1683G>T
ENST00000644757.1:c.*1796G>T	ENSP00000495085.1:n.*1796G>T
ENST00000644772.1:c.3577G>T	ENSP00000494321.1:p.Ala1193Ser
ENST00000645004.1:n.650G>T
ENST00000645076.1:c.2710G>T
ENST00000645417.1:c.677G>T
ENST00000645744.1:c.*1775G>T	ENSP00000494564.1:n.*1775G>T
ENST00000645760.1:c.3786G>T
ENST00000645884.1:c.*648G>T	ENSP00000495516.1:n.*648G>T
ENST00000646003.1:c.*1467G>T	ENSP00000495259.1:n.*1467G>T
ENST00000646207.1:c.*1978G>T	ENSP00000495025.1:n.*1978G>T
ENST00000646276.1:c.*1784G>T	ENSP00000496070.1:n.*1784G>T
ENST00000646592.1:c.2817G>T
ENST00000646902.1:c.3508G>T	ENSP00000494101.1:p.Ala1170Ser
ENST00000646993.1:c.*1907G>T	ENSP00000493720.1:n.*1907G>T
ENST00000647013.1:c.3517G>T	ENSP00000496741.1:n.3517G>T
ENST00000647015.1:c.3262G>T	ENSP00000495389.1:p.Ala1088Ser
ENST00000647086.1:c.*3241G>T	ENSP00000493677.1:n.*3241G>T
ENST00000647158.1:c.*1652G>T	ENSP00000495744.1:n.*1652G>T
ENST00000302539.8:c.3514G>T	ENSP00000303960.4:p.Ala1172Ser
ENST00000389817.7:c.3511G>T	ENSP00000374467.3:p.Ala1171Ser
ENST00000524561.1:n.643G>T
ENST00000527905.5:c.*387G>T	ENSP00000431653.1:n.*387G>T
ENST00000531137.1:n.4G>T
NM_000352.4:c.3511G>T	NP_000343.2:p.Ala1171Ser
NM_001287174.1:c.3514G>T	NP_001274103.1:p.Ala1172Ser
XM_011520331.1:c.3511G>T	XP_011518633.1:p.Ala1171Ser
XM_011520332.1:c.3514G>T	XP_011518634.1:p.Ala1172Ser
XM_011520333.1:c.2011G>T	XP_011518635.1:p.Ala671Ser
XR_930890.1:n.3577G>T
XR_930892.1:n.3477G>T
XR_930893.1:n.3474G>T
NM_001351295.1:c.3577G>T	NP_001338224.1:p.Ala1193Ser
NM_001351296.1:c.3511G>T	NP_001338225.1:p.Ala1171Ser
NM_001351297.1:c.3508G>T	NP_001338226.1:p.Ala1170Ser
NR_147094.1:n.3660G>T
XM_017018197.2:c.3580G>T	XP_016873686.1:p.Ala1194Ser
XM_017018199.1:c.3577G>T	XP_016873688.1:p.Ala1193Ser
XM_017018201.2:c.3580G>T	XP_016873690.1:p.Ala1194Ser
XM_017018202.1:c.2077G>T	XP_016873691.1:p.Ala693Ser
XM_017018204.1:c.1468G>T	XP_016873693.1:p.Ala490Ser
XM_024448668.1:c.1879G>T	XP_024304436.1:p.Ala627Ser
XR_001747945.2:n.3652G>T
XR_001747946.2:n.3583G>T
XR_002957189.1:n.3732G>T
NM_000352.6:c.3511G>T MANE Select	NP_000343.2:p.Ala1171Ser
NM_001287174.2:c.3514G>T	NP_001274103.1:p.Ala1172Ser
NM_001351295.2:c.3577G>T	NP_001338224.1:p.Ala1193Ser
NM_001351296.2:c.3511G>T	NP_001338225.1:p.Ala1171Ser
NM_001351297.2:c.3508G>T	NP_001338226.1:p.Ala1170Ser
NR_147094.2:n.3660G>T
NM_001287174.3:c.3514G>T	NP_001274103.1:p.Ala1172Ser