Canonical Allele Identifier: CA473298561

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17418565T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17397018T>G , CM000673.2:g.17397018T>G	GRCh38
NC_000011.9:g.17418565T>G , CM000673.1:g.17418565T>G	GRCh37
NC_000011.8:g.17375141T>G	NCBI36
NG_008867.1:g.84885A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3618A>C
ENST00000528374.2:c.608A>C
ENST00000529967.6:n.2356A>C
ENST00000532220.2:n.2265A>C
ENST00000642611.2:n.4232A>C
ENST00000644057.2:n.460A>C
ENST00000645004.2:n.1516A>C
ENST00000682051.1:n.4179A>C
ENST00000682110.1:n.4232A>C
ENST00000682140.1:c.3985+175A>C	ENSP00000507829.1:n.3985+175A>C
ENST00000682185.1:n.5322A>C
ENST00000682204.1:c.*2155A>C	ENSP00000507094.1:n.*2155A>C
ENST00000682215.1:n.4599A>C
ENST00000682288.1:c.*2448A>C	ENSP00000507506.1:n.*2448A>C
ENST00000682442.1:n.4452A>C
ENST00000682528.1:n.4309A>C
ENST00000682673.1:n.4176A>C
ENST00000682805.1:n.4599A>C
ENST00000682965.1:c.*439A>C	ENSP00000508229.1:n.*439A>C
ENST00000683093.1:n.4331A>C
ENST00000683136.1:c.3900A>C	ENSP00000507768.1:p.Pro1300=
ENST00000683153.1:n.4274A>C
ENST00000683365.1:n.4334A>C
ENST00000683377.1:n.4232A>C
ENST00000683456.1:c.*1154A>C	ENSP00000508318.1:n.*1154A>C
ENST00000683522.1:n.4232A>C
ENST00000683562.1:c.*2186A>C	ENSP00000508265.1:n.*2186A>C
ENST00000683693.1:n.4679A>C
ENST00000683725.1:c.4017A>C	ENSP00000507496.1:p.Pro1339=
ENST00000684010.1:n.4227A>C
ENST00000684157.1:n.4232A>C
ENST00000684253.1:n.4135A>C
ENST00000684288.1:c.*2189A>C	ENSP00000507143.1:n.*2189A>C
ENST00000684313.1:n.3664A>C
ENST00000684332.1:n.4305A>C
ENST00000684371.1:n.4338A>C
ENST00000684404.1:n.4275A>C
ENST00000684442.1:n.4456A>C
ENST00000684555.1:c.*2229A>C	ENSP00000507705.1:n.*2229A>C
ENST00000684571.1:c.3858A>C	ENSP00000506935.1:p.Pro1286=
ENST00000684593.1:c.*3722A>C	ENSP00000507005.1:n.*3722A>C
ENST00000684711.1:c.*2413A>C	ENSP00000506841.1:n.*2413A>C
ENST00000302539.9:c.4020A>C	ENSP00000303960.4:p.Pro1340=
ENST00000389817.8:c.4017A>C MANE Select	ENSP00000374467.4:p.Pro1339=
ENST00000642271.1:c.4014A>C	ENSP00000493749.1:p.Pro1338=
ENST00000642579.1:c.2073-2A>C
ENST00000642611.1:n.4117A>C
ENST00000642902.1:c.3799A>C
ENST00000643260.1:c.4017A>C	ENSP00000494450.1:p.Pro1339=
ENST00000643562.1:c.*2139A>C	ENSP00000496124.1:n.*2139A>C
ENST00000643925.1:c.2657A>C
ENST00000644057.1:n.94A>C
ENST00000644484.1:c.*2418A>C	ENSP00000493558.1:n.*2418A>C
ENST00000644675.1:c.*2189A>C	ENSP00000494567.1:n.*2189A>C
ENST00000644757.1:c.*2448A>C	ENSP00000495085.1:n.*2448A>C
ENST00000644772.1:c.4083A>C	ENSP00000494321.1:p.Pro1361=
ENST00000645004.1:n.1672A>C
ENST00000645076.1:c.3216A>C
ENST00000645417.1:c.1205A>C
ENST00000645744.1:c.*2797A>C	ENSP00000494564.1:n.*2797A>C
ENST00000645760.1:c.4438A>C
ENST00000645884.1:c.*1300A>C	ENSP00000495516.1:n.*1300A>C
ENST00000646003.1:c.*2119A>C	ENSP00000495259.1:n.*2119A>C
ENST00000646207.1:c.*2854A>C	ENSP00000495025.1:n.*2854A>C
ENST00000646276.1:c.*2436A>C	ENSP00000496070.1:n.*2436A>C
ENST00000646592.1:c.3323A>C
ENST00000646902.1:c.3986-2A>C	ENSP00000494101.1:n.3986-2A>C
ENST00000646993.1:c.*2559A>C	ENSP00000493720.1:n.*2559A>C
ENST00000647013.1:c.4023A>C	ENSP00000496741.1:n.4023A>C
ENST00000647015.1:c.3768A>C	ENSP00000495389.1:p.Pro1256=
ENST00000647086.1:c.*3605-2A>C	ENSP00000493677.1:n.*3605-2A>C
ENST00000647158.1:c.*2304A>C	ENSP00000495744.1:n.*2304A>C
ENST00000302539.8:c.4020A>C	ENSP00000303960.4:p.Pro1340=
ENST00000389817.7:c.4017A>C	ENSP00000374467.3:p.Pro1339=
ENST00000527905.5:c.*1039A>C	ENSP00000431653.1:n.*1039A>C
ENST00000528374.1:c.499A>C
ENST00000531137.1:n.582A>C
ENST00000531891.1:c.357-2A>C
ENST00000532220.1:n.491A>C
NM_000352.4:c.4017A>C	NP_000343.2:p.Pro1339=
NM_001287174.1:c.4020A>C	NP_001274103.1:p.Pro1340=
XM_011520331.1:c.4017A>C	XP_011518633.1:p.Pro1339=
XM_011520332.1:c.4020A>C	XP_011518634.1:p.Pro1340=
XM_011520333.1:c.2517A>C	XP_011518635.1:p.Pro839=
XR_930890.1:n.4083A>C
NM_001351295.1:c.4083A>C	NP_001338224.1:p.Pro1361=
NM_001351296.1:c.4017A>C	NP_001338225.1:p.Pro1339=
NM_001351297.1:c.4014A>C	NP_001338226.1:p.Pro1338=
NR_147094.1:n.4312A>C
XM_017018197.2:c.4086A>C	XP_016873686.1:p.Pro1362=
XM_017018199.1:c.4083A>C	XP_016873688.1:p.Pro1361=
XM_017018201.2:c.4086A>C	XP_016873690.1:p.Pro1362=
XM_017018202.1:c.2583A>C	XP_016873691.1:p.Pro861=
XM_017018204.1:c.1974A>C	XP_016873693.1:p.Pro658=
XM_024448668.1:c.2385A>C	XP_024304436.1:p.Pro795=
XR_001747945.2:n.4158A>C
XR_001747946.2:n.4089A>C
XR_002957189.1:n.4754A>C
NM_000352.6:c.4017A>C MANE Select	NP_000343.2:p.Pro1339=
NM_001287174.2:c.4020A>C	NP_001274103.1:p.Pro1340=
NM_001351295.2:c.4083A>C	NP_001338224.1:p.Pro1361=
NM_001351296.2:c.4017A>C	NP_001338225.1:p.Pro1339=
NM_001351297.2:c.4014A>C	NP_001338226.1:p.Pro1338=
NR_147094.2:n.4312A>C
NM_001287174.3:c.4020A>C	NP_001274103.1:p.Pro1340=