Canonical Allele Identifier: CA379790640

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17418524T>A (hg19) ; chr11:g.17396977T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17396977T>A , CM000673.2:g.17396977T>A	GRCh38
NC_000011.9:g.17418524T>A , CM000673.1:g.17418524T>A	GRCh37
NC_000011.8:g.17375100T>A	NCBI36
NG_008867.1:g.84926A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3659A>T
ENST00000528374.2:c.649A>T
ENST00000529967.6:n.2397A>T
ENST00000532220.2:n.2306A>T
ENST00000642611.2:n.4273A>T
ENST00000644057.2:n.501A>T
ENST00000645004.2:n.1557A>T
ENST00000682051.1:n.4220A>T
ENST00000682110.1:n.4273A>T
ENST00000682140.1:c.3985+216A>T	ENSP00000507829.1:n.3985+216A>T
ENST00000682185.1:n.5363A>T
ENST00000682204.1:c.*2196A>T	ENSP00000507094.1:n.*2196A>T
ENST00000682215.1:n.4640A>T
ENST00000682288.1:c.*2489A>T	ENSP00000507506.1:n.*2489A>T
ENST00000682442.1:n.4493A>T
ENST00000682528.1:n.4350A>T
ENST00000682673.1:n.4217A>T
ENST00000682805.1:n.4640A>T
ENST00000682965.1:c.*480A>T	ENSP00000508229.1:n.*480A>T
ENST00000683093.1:n.4372A>T
ENST00000683136.1:c.3941A>T	ENSP00000507768.1:p.Tyr1314Phe
ENST00000683153.1:n.4315A>T
ENST00000683365.1:n.4375A>T
ENST00000683377.1:n.4273A>T
ENST00000683456.1:c.*1195A>T	ENSP00000508318.1:n.*1195A>T
ENST00000683522.1:n.4273A>T
ENST00000683562.1:c.*2227A>T	ENSP00000508265.1:n.*2227A>T
ENST00000683693.1:n.4720A>T
ENST00000683725.1:c.4058A>T	ENSP00000507496.1:p.Tyr1353Phe
ENST00000684010.1:n.4268A>T
ENST00000684157.1:n.4273A>T
ENST00000684253.1:n.4176A>T
ENST00000684288.1:c.*2230A>T	ENSP00000507143.1:n.*2230A>T
ENST00000684313.1:n.3705A>T
ENST00000684332.1:n.4346A>T
ENST00000684371.1:n.4379A>T
ENST00000684404.1:n.4316A>T
ENST00000684442.1:n.4497A>T
ENST00000684555.1:c.*2270A>T	ENSP00000507705.1:n.*2270A>T
ENST00000684571.1:c.3899A>T	ENSP00000506935.1:p.Tyr1300Phe
ENST00000684593.1:c.*3763A>T	ENSP00000507005.1:n.*3763A>T
ENST00000684711.1:c.*2454A>T	ENSP00000506841.1:n.*2454A>T
ENST00000302539.9:c.4061A>T	ENSP00000303960.4:p.Tyr1354Phe
ENST00000389817.8:c.4058A>T MANE Select	ENSP00000374467.4:p.Tyr1353Phe
ENST00000642271.1:c.4055A>T	ENSP00000493749.1:p.Tyr1352Phe
ENST00000642579.1:c.2112A>T
ENST00000642611.1:n.4158A>T
ENST00000642902.1:c.3840A>T
ENST00000643260.1:c.4058A>T	ENSP00000494450.1:p.Tyr1353Phe
ENST00000643562.1:c.*2180A>T	ENSP00000496124.1:n.*2180A>T
ENST00000643925.1:c.2698A>T
ENST00000644057.1:n.135A>T
ENST00000644484.1:c.*2459A>T	ENSP00000493558.1:n.*2459A>T
ENST00000644675.1:c.*2230A>T	ENSP00000494567.1:n.*2230A>T
ENST00000644757.1:c.*2489A>T	ENSP00000495085.1:n.*2489A>T
ENST00000644772.1:c.4124A>T	ENSP00000494321.1:p.Tyr1375Phe
ENST00000645004.1:n.1713A>T
ENST00000645076.1:c.3257A>T
ENST00000645417.1:c.1246A>T
ENST00000645744.1:c.*2838A>T	ENSP00000494564.1:n.*2838A>T
ENST00000645760.1:c.4479A>T
ENST00000645884.1:c.*1341A>T	ENSP00000495516.1:n.*1341A>T
ENST00000646003.1:c.*2160A>T	ENSP00000495259.1:n.*2160A>T
ENST00000646207.1:c.*2895A>T	ENSP00000495025.1:n.*2895A>T
ENST00000646276.1:c.*2477A>T	ENSP00000496070.1:n.*2477A>T
ENST00000646592.1:c.3364A>T
ENST00000646902.1:c.4025A>T	ENSP00000494101.1:p.Tyr1342Phe
ENST00000646993.1:c.*2600A>T	ENSP00000493720.1:n.*2600A>T
ENST00000647013.1:c.4064A>T	ENSP00000496741.1:n.4064A>T
ENST00000647015.1:c.3809A>T	ENSP00000495389.1:p.Tyr1270Phe
ENST00000647086.1:c.*3644A>T	ENSP00000493677.1:n.*3644A>T
ENST00000647158.1:c.*2345A>T	ENSP00000495744.1:n.*2345A>T
ENST00000302539.8:c.4061A>T	ENSP00000303960.4:p.Tyr1354Phe
ENST00000389817.7:c.4058A>T	ENSP00000374467.3:p.Tyr1353Phe
ENST00000527905.5:c.*1080A>T	ENSP00000431653.1:n.*1080A>T
ENST00000528374.1:c.540A>T
ENST00000531137.1:n.623A>T
ENST00000531891.1:c.396A>T
ENST00000532220.1:n.532A>T
NM_000352.4:c.4058A>T	NP_000343.2:p.Tyr1353Phe
NM_001287174.1:c.4061A>T	NP_001274103.1:p.Tyr1354Phe
XM_011520331.1:c.4058A>T	XP_011518633.1:p.Tyr1353Phe
XM_011520332.1:c.4061A>T	XP_011518634.1:p.Tyr1354Phe
XM_011520333.1:c.2558A>T	XP_011518635.1:p.Tyr853Phe
XR_930890.1:n.4124A>T
NM_001351295.1:c.4124A>T	NP_001338224.1:p.Tyr1375Phe
NM_001351296.1:c.4058A>T	NP_001338225.1:p.Tyr1353Phe
NM_001351297.1:c.4055A>T	NP_001338226.1:p.Tyr1352Phe
NR_147094.1:n.4353A>T
XM_017018197.2:c.4127A>T	XP_016873686.1:p.Tyr1376Phe
XM_017018199.1:c.4124A>T	XP_016873688.1:p.Tyr1375Phe
XM_017018201.2:c.4127A>T	XP_016873690.1:p.Tyr1376Phe
XM_017018202.1:c.2624A>T	XP_016873691.1:p.Tyr875Phe
XM_017018204.1:c.2015A>T	XP_016873693.1:p.Tyr672Phe
XM_024448668.1:c.2426A>T	XP_024304436.1:p.Tyr809Phe
XR_001747945.2:n.4199A>T
XR_001747946.2:n.4130A>T
XR_002957189.1:n.4795A>T
NM_000352.6:c.4058A>T MANE Select	NP_000343.2:p.Tyr1353Phe
NM_001287174.2:c.4061A>T	NP_001274103.1:p.Tyr1354Phe
NM_001351295.2:c.4124A>T	NP_001338224.1:p.Tyr1375Phe
NM_001351296.2:c.4058A>T	NP_001338225.1:p.Tyr1353Phe
NM_001351297.2:c.4055A>T	NP_001338226.1:p.Tyr1352Phe
NR_147094.2:n.4353A>T
NM_001287174.3:c.4061A>T	NP_001274103.1:p.Tyr1354Phe