Canonical Allele Identifier: CA473298432

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17418472A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17396925A>G , CM000673.2:g.17396925A>G	GRCh38
NC_000011.9:g.17418472A>G , CM000673.1:g.17418472A>G	GRCh37
NC_000011.8:g.17375048A>G	NCBI36
NG_008867.1:g.84978T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.3711T>C
ENST00000528374.2:c.701T>C
ENST00000529967.6:n.2449T>C
ENST00000532220.2:n.2358T>C
ENST00000642611.2:n.4325T>C
ENST00000644057.2:n.553T>C
ENST00000645004.2:n.1609T>C
ENST00000682051.1:n.4272T>C
ENST00000682110.1:n.4325T>C
ENST00000682140.1:c.3985+268T>C	ENSP00000507829.1:n.3985+268T>C
ENST00000682185.1:n.5415T>C
ENST00000682204.1:c.*2248T>C	ENSP00000507094.1:n.*2248T>C
ENST00000682215.1:n.4692T>C
ENST00000682288.1:c.*2541T>C	ENSP00000507506.1:n.*2541T>C
ENST00000682442.1:n.4545T>C
ENST00000682528.1:n.4402T>C
ENST00000682673.1:n.4269T>C
ENST00000682805.1:n.4692T>C
ENST00000682965.1:c.*532T>C	ENSP00000508229.1:n.*532T>C
ENST00000683093.1:n.4424T>C
ENST00000683136.1:c.3993T>C	ENSP00000507768.1:p.Pro1331=
ENST00000683153.1:n.4367T>C
ENST00000683365.1:n.4427T>C
ENST00000683377.1:n.4325T>C
ENST00000683456.1:c.*1247T>C	ENSP00000508318.1:n.*1247T>C
ENST00000683522.1:n.4325T>C
ENST00000683562.1:c.*2279T>C	ENSP00000508265.1:n.*2279T>C
ENST00000683693.1:n.4772T>C
ENST00000683725.1:c.4110T>C	ENSP00000507496.1:p.Pro1370=
ENST00000684010.1:n.4320T>C
ENST00000684157.1:n.4325T>C
ENST00000684253.1:n.4228T>C
ENST00000684288.1:c.*2282T>C	ENSP00000507143.1:n.*2282T>C
ENST00000684313.1:n.3757T>C
ENST00000684332.1:n.4398T>C
ENST00000684371.1:n.4431T>C
ENST00000684404.1:n.4368T>C
ENST00000684442.1:n.4549T>C
ENST00000684555.1:c.*2322T>C	ENSP00000507705.1:n.*2322T>C
ENST00000684571.1:c.3951T>C	ENSP00000506935.1:p.Pro1317=
ENST00000684593.1:c.*3815T>C	ENSP00000507005.1:n.*3815T>C
ENST00000684711.1:c.*2506T>C	ENSP00000506841.1:n.*2506T>C
ENST00000302539.9:c.4113T>C	ENSP00000303960.4:p.Pro1371=
ENST00000389817.8:c.4110T>C MANE Select	ENSP00000374467.4:p.Pro1370=
ENST00000642271.1:c.4107T>C	ENSP00000493749.1:p.Pro1369=
ENST00000642579.1:c.2164T>C
ENST00000642611.1:n.4210T>C
ENST00000642902.1:c.3892T>C
ENST00000643260.1:c.4110T>C	ENSP00000494450.1:p.Pro1370=
ENST00000643562.1:c.*2232T>C	ENSP00000496124.1:n.*2232T>C
ENST00000643925.1:c.2750T>C
ENST00000644057.1:n.187T>C
ENST00000644484.1:c.*2511T>C	ENSP00000493558.1:n.*2511T>C
ENST00000644675.1:c.*2282T>C	ENSP00000494567.1:n.*2282T>C
ENST00000644757.1:c.*2541T>C	ENSP00000495085.1:n.*2541T>C
ENST00000644772.1:c.4176T>C	ENSP00000494321.1:p.Pro1392=
ENST00000645004.1:n.1765T>C
ENST00000645076.1:c.3309T>C
ENST00000645417.1:c.1298T>C
ENST00000645744.1:c.*2890T>C	ENSP00000494564.1:n.*2890T>C
ENST00000645760.1:c.4531T>C
ENST00000645884.1:c.*1393T>C	ENSP00000495516.1:n.*1393T>C
ENST00000646003.1:c.*2212T>C	ENSP00000495259.1:n.*2212T>C
ENST00000646207.1:c.*2947T>C	ENSP00000495025.1:n.*2947T>C
ENST00000646276.1:c.*2529T>C	ENSP00000496070.1:n.*2529T>C
ENST00000646592.1:c.3416T>C
ENST00000646902.1:c.4077T>C	ENSP00000494101.1:p.Pro1359=
ENST00000646993.1:c.*2652T>C	ENSP00000493720.1:n.*2652T>C
ENST00000647013.1:c.4116T>C	ENSP00000496741.1:n.4116T>C
ENST00000647015.1:c.3861T>C	ENSP00000495389.1:p.Pro1287=
ENST00000647086.1:c.*3696T>C	ENSP00000493677.1:n.*3696T>C
ENST00000647158.1:c.*2397T>C	ENSP00000495744.1:n.*2397T>C
ENST00000302539.8:c.4113T>C	ENSP00000303960.4:p.Pro1371=
ENST00000389817.7:c.4110T>C	ENSP00000374467.3:p.Pro1370=
ENST00000527905.5:c.*1132T>C	ENSP00000431653.1:n.*1132T>C
ENST00000528374.1:c.592T>C
ENST00000532220.1:n.584T>C
NM_000352.4:c.4110T>C	NP_000343.2:p.Pro1370=
NM_001287174.1:c.4113T>C	NP_001274103.1:p.Pro1371=
XM_011520331.1:c.4110T>C	XP_011518633.1:p.Pro1370=
XM_011520332.1:c.4113T>C	XP_011518634.1:p.Pro1371=
XM_011520333.1:c.2610T>C	XP_011518635.1:p.Pro870=
XR_930890.1:n.4176T>C
NM_001351295.1:c.4176T>C	NP_001338224.1:p.Pro1392=
NM_001351296.1:c.4110T>C	NP_001338225.1:p.Pro1370=
NM_001351297.1:c.4107T>C	NP_001338226.1:p.Pro1369=
NR_147094.1:n.4405T>C
XM_017018197.2:c.4179T>C	XP_016873686.1:p.Pro1393=
XM_017018199.1:c.4176T>C	XP_016873688.1:p.Pro1392=
XM_017018201.2:c.4179T>C	XP_016873690.1:p.Pro1393=
XM_017018202.1:c.2676T>C	XP_016873691.1:p.Pro892=
XM_017018204.1:c.2067T>C	XP_016873693.1:p.Pro689=
XM_024448668.1:c.2478T>C	XP_024304436.1:p.Pro826=
XR_001747945.2:n.4251T>C
XR_001747946.2:n.4182T>C
XR_002957189.1:n.4847T>C
NM_000352.6:c.4110T>C MANE Select	NP_000343.2:p.Pro1370=
NM_001287174.2:c.4113T>C	NP_001274103.1:p.Pro1371=
NM_001351295.2:c.4176T>C	NP_001338224.1:p.Pro1392=
NM_001351296.2:c.4110T>C	NP_001338225.1:p.Pro1370=
NM_001351297.2:c.4107T>C	NP_001338226.1:p.Pro1369=
NR_147094.2:n.4405T>C
NM_001287174.3:c.4113T>C	NP_001274103.1:p.Pro1371=