Canonical Allele Identifier: CA379791258

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17418582T>G (hg19) ; chr11:g.17397035T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17397035T>G , CM000673.2:g.17397035T>G	GRCh38
NC_000011.9:g.17418582T>G , CM000673.1:g.17418582T>G	GRCh37
NC_000011.8:g.17375158T>G	NCBI36
NG_008867.1:g.84868A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3601A>C
ENST00000528374.2:c.591A>C
ENST00000529967.6:n.2339A>C
ENST00000532220.2:n.2248A>C
ENST00000642611.2:n.4215A>C
ENST00000644057.2:n.443A>C
ENST00000645004.2:n.1499A>C
ENST00000682051.1:n.4162A>C
ENST00000682110.1:n.4215A>C
ENST00000682140.1:c.3985+158A>C	ENSP00000507829.1:n.3985+158A>C
ENST00000682185.1:n.5305A>C
ENST00000682204.1:c.*2138A>C	ENSP00000507094.1:n.*2138A>C
ENST00000682215.1:n.4582A>C
ENST00000682288.1:c.*2431A>C	ENSP00000507506.1:n.*2431A>C
ENST00000682442.1:n.4435A>C
ENST00000682528.1:n.4292A>C
ENST00000682673.1:n.4159A>C
ENST00000682805.1:n.4582A>C
ENST00000682965.1:c.*422A>C	ENSP00000508229.1:n.*422A>C
ENST00000683093.1:n.4314A>C
ENST00000683136.1:c.3883A>C	ENSP00000507768.1:p.Ile1295Leu
ENST00000683153.1:n.4257A>C
ENST00000683365.1:n.4317A>C
ENST00000683377.1:n.4215A>C
ENST00000683456.1:c.*1137A>C	ENSP00000508318.1:n.*1137A>C
ENST00000683522.1:n.4215A>C
ENST00000683562.1:c.*2169A>C	ENSP00000508265.1:n.*2169A>C
ENST00000683693.1:n.4662A>C
ENST00000683725.1:c.4000A>C	ENSP00000507496.1:p.Ile1334Leu
ENST00000684010.1:n.4210A>C
ENST00000684157.1:n.4215A>C
ENST00000684253.1:n.4118A>C
ENST00000684288.1:c.*2172A>C	ENSP00000507143.1:n.*2172A>C
ENST00000684313.1:n.3647A>C
ENST00000684332.1:n.4288A>C
ENST00000684371.1:n.4321A>C
ENST00000684404.1:n.4258A>C
ENST00000684442.1:n.4439A>C
ENST00000684555.1:c.*2212A>C	ENSP00000507705.1:n.*2212A>C
ENST00000684571.1:c.3841A>C	ENSP00000506935.1:p.Ile1281Leu
ENST00000684593.1:c.*3705A>C	ENSP00000507005.1:n.*3705A>C
ENST00000684711.1:c.*2396A>C	ENSP00000506841.1:n.*2396A>C
ENST00000302539.9:c.4003A>C	ENSP00000303960.4:p.Ile1335Leu
ENST00000389817.8:c.4000A>C MANE Select	ENSP00000374467.4:p.Ile1334Leu
ENST00000642271.1:c.3997A>C	ENSP00000493749.1:p.Ile1333Leu
ENST00000642579.1:c.2073-19A>C
ENST00000642611.1:n.4100A>C
ENST00000642902.1:c.3782A>C
ENST00000643260.1:c.4000A>C	ENSP00000494450.1:p.Ile1334Leu
ENST00000643562.1:c.*2122A>C	ENSP00000496124.1:n.*2122A>C
ENST00000643925.1:c.2640A>C
ENST00000644057.1:n.77A>C
ENST00000644484.1:c.*2401A>C	ENSP00000493558.1:n.*2401A>C
ENST00000644675.1:c.*2172A>C	ENSP00000494567.1:n.*2172A>C
ENST00000644757.1:c.*2431A>C	ENSP00000495085.1:n.*2431A>C
ENST00000644772.1:c.4066A>C	ENSP00000494321.1:p.Ile1356Leu
ENST00000645004.1:n.1655A>C
ENST00000645076.1:c.3199A>C
ENST00000645417.1:c.1188A>C
ENST00000645744.1:c.*2780A>C	ENSP00000494564.1:n.*2780A>C
ENST00000645760.1:c.4421A>C
ENST00000645884.1:c.*1283A>C	ENSP00000495516.1:n.*1283A>C
ENST00000646003.1:c.*2102A>C	ENSP00000495259.1:n.*2102A>C
ENST00000646207.1:c.*2837A>C	ENSP00000495025.1:n.*2837A>C
ENST00000646276.1:c.*2419A>C	ENSP00000496070.1:n.*2419A>C
ENST00000646592.1:c.3306A>C
ENST00000646902.1:c.3986-19A>C	ENSP00000494101.1:n.3986-19A>C
ENST00000646993.1:c.*2542A>C	ENSP00000493720.1:n.*2542A>C
ENST00000647013.1:c.4006A>C	ENSP00000496741.1:n.4006A>C
ENST00000647015.1:c.3751A>C	ENSP00000495389.1:p.Ile1251Leu
ENST00000647086.1:c.*3605-19A>C	ENSP00000493677.1:n.*3605-19A>C
ENST00000647158.1:c.*2287A>C	ENSP00000495744.1:n.*2287A>C
ENST00000302539.8:c.4003A>C	ENSP00000303960.4:p.Ile1335Leu
ENST00000389817.7:c.4000A>C	ENSP00000374467.3:p.Ile1334Leu
ENST00000527905.5:c.*1022A>C	ENSP00000431653.1:n.*1022A>C
ENST00000528374.1:c.482A>C
ENST00000531137.1:n.565A>C
ENST00000531891.1:c.357-19A>C
ENST00000532220.1:n.474A>C
NM_000352.4:c.4000A>C	NP_000343.2:p.Ile1334Leu
NM_001287174.1:c.4003A>C	NP_001274103.1:p.Ile1335Leu
XM_011520331.1:c.4000A>C	XP_011518633.1:p.Ile1334Leu
XM_011520332.1:c.4003A>C	XP_011518634.1:p.Ile1335Leu
XM_011520333.1:c.2500A>C	XP_011518635.1:p.Ile834Leu
XR_930890.1:n.4066A>C
NM_001351295.1:c.4066A>C	NP_001338224.1:p.Ile1356Leu
NM_001351296.1:c.4000A>C	NP_001338225.1:p.Ile1334Leu
NM_001351297.1:c.3997A>C	NP_001338226.1:p.Ile1333Leu
NR_147094.1:n.4295A>C
XM_017018197.2:c.4069A>C	XP_016873686.1:p.Ile1357Leu
XM_017018199.1:c.4066A>C	XP_016873688.1:p.Ile1356Leu
XM_017018201.2:c.4069A>C	XP_016873690.1:p.Ile1357Leu
XM_017018202.1:c.2566A>C	XP_016873691.1:p.Ile856Leu
XM_017018204.1:c.1957A>C	XP_016873693.1:p.Ile653Leu
XM_024448668.1:c.2368A>C	XP_024304436.1:p.Ile790Leu
XR_001747945.2:n.4141A>C
XR_001747946.2:n.4072A>C
XR_002957189.1:n.4737A>C
NM_000352.6:c.4000A>C MANE Select	NP_000343.2:p.Ile1334Leu
NM_001287174.2:c.4003A>C	NP_001274103.1:p.Ile1335Leu
NM_001351295.2:c.4066A>C	NP_001338224.1:p.Ile1356Leu
NM_001351296.2:c.4000A>C	NP_001338225.1:p.Ile1334Leu
NM_001351297.2:c.3997A>C	NP_001338226.1:p.Ile1333Leu
NR_147094.2:n.4295A>C
NM_001287174.3:c.4003A>C	NP_001274103.1:p.Ile1335Leu