Canonical Allele Identifier: CA473298186

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17395260-A-G
• MyVariant Identifiers: chr11:g.17416807A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395260A>G , CM000673.2:g.17395260A>G	GRCh38
NC_000011.9:g.17416807A>G , CM000673.1:g.17416807A>G	GRCh37
NC_000011.8:g.17373383A>G	NCBI36
NG_008867.1:g.86643T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3924T>C
ENST00000526037.6:n.258T>C
ENST00000528374.2:c.914T>C
ENST00000529967.6:n.2662T>C
ENST00000532220.2:n.3556T>C
ENST00000642611.2:n.5656T>C
ENST00000644057.2:n.899T>C
ENST00000645004.2:n.1822T>C
ENST00000682051.1:n.4485T>C
ENST00000682110.1:n.4538T>C
ENST00000682140.1:c.*109T>C	ENSP00000507829.1:n.*109T>C
ENST00000682185.1:n.5628T>C
ENST00000682204.1:c.*2461T>C	ENSP00000507094.1:n.*2461T>C
ENST00000682215.1:n.4905T>C
ENST00000682288.1:c.*2754T>C	ENSP00000507506.1:n.*2754T>C
ENST00000682442.1:n.4758T>C
ENST00000682528.1:n.4615T>C
ENST00000682673.1:n.4482T>C
ENST00000682805.1:n.4943T>C
ENST00000682965.1:c.*745T>C	ENSP00000508229.1:n.*745T>C
ENST00000683093.1:n.5606+350T>C
ENST00000683136.1:c.4206T>C	ENSP00000507768.1:p.Pro1402=
ENST00000683153.1:n.4580T>C
ENST00000683365.1:n.4640T>C
ENST00000683377.1:n.4522+350T>C
ENST00000683456.1:c.*1460T>C	ENSP00000508318.1:n.*1460T>C
ENST00000683522.1:n.4538T>C
ENST00000683562.1:c.*2476+350T>C	ENSP00000508265.1:n.*2476+350T>C
ENST00000683693.1:n.6087+350T>C
ENST00000683725.1:c.4307+350T>C	ENSP00000507496.1:n.4307+350T>C
ENST00000684010.1:n.4533T>C
ENST00000684157.1:n.5523T>C
ENST00000684253.1:n.4441T>C
ENST00000684288.1:c.*2495T>C	ENSP00000507143.1:n.*2495T>C
ENST00000684313.1:n.3970T>C
ENST00000684332.1:n.4611T>C
ENST00000684371.1:n.4644T>C
ENST00000684404.1:n.5566T>C
ENST00000684442.1:n.4762T>C
ENST00000684555.1:c.*2535T>C	ENSP00000507705.1:n.*2535T>C
ENST00000684571.1:c.4164T>C	ENSP00000506935.1:p.Pro1388=
ENST00000684593.1:c.*4028T>C	ENSP00000507005.1:n.*4028T>C
ENST00000684711.1:c.*2719T>C	ENSP00000506841.1:n.*2719T>C
ENST00000302539.9:c.4326T>C	ENSP00000303960.4:p.Pro1442=
ENST00000389817.8:c.4323T>C MANE Select	ENSP00000374467.4:p.Pro1441=
ENST00000642271.1:c.4320T>C	ENSP00000493749.1:p.Pro1440=
ENST00000642579.1:c.2377T>C
ENST00000642611.1:n.5541T>C
ENST00000642902.1:c.4105T>C
ENST00000643260.1:c.4323T>C	ENSP00000494450.1:p.Pro1441=
ENST00000643562.1:c.*2445T>C	ENSP00000496124.1:n.*2445T>C
ENST00000643925.1:c.2963T>C
ENST00000644057.1:n.400T>C
ENST00000644484.1:c.*3709T>C	ENSP00000493558.1:n.*3709T>C
ENST00000644675.1:c.*2495T>C	ENSP00000494567.1:n.*2495T>C
ENST00000644757.1:c.*3202+1004T>C	ENSP00000495085.1:n.*3202+1004T>C
ENST00000644772.1:c.4389T>C	ENSP00000494321.1:p.Pro1463=
ENST00000645004.1:n.2016T>C
ENST00000645076.1:c.3506+350T>C
ENST00000645417.1:c.1511T>C
ENST00000645744.1:c.*4008T>C	ENSP00000494564.1:n.*4008T>C
ENST00000645760.1:c.4744T>C
ENST00000645884.1:c.*1606T>C	ENSP00000495516.1:n.*1606T>C
ENST00000646003.1:c.*2345T>C	ENSP00000495259.1:n.*2345T>C
ENST00000646207.1:c.*3160T>C	ENSP00000495025.1:n.*3160T>C
ENST00000646276.1:c.*3727T>C	ENSP00000496070.1:n.*3727T>C
ENST00000646592.1:c.3629T>C
ENST00000646902.1:c.4290T>C	ENSP00000494101.1:p.Pro1430=
ENST00000646993.1:c.*2849+350T>C	ENSP00000493720.1:n.*2849+350T>C
ENST00000647013.1:c.4329T>C	ENSP00000496741.1:n.4329T>C
ENST00000647015.1:c.4074T>C	ENSP00000495389.1:p.Pro1358=
ENST00000647086.1:c.*3909T>C	ENSP00000493677.1:n.*3909T>C
ENST00000647158.1:c.*2610T>C	ENSP00000495744.1:n.*2610T>C
ENST00000302539.8:c.4326T>C	ENSP00000303960.4:p.Pro1442=
ENST00000389817.7:c.4323T>C	ENSP00000374467.3:p.Pro1441=
ENST00000525022.1:n.306+350T>C
ENST00000526037.5:n.171+350T>C
ENST00000526168.5:c.111T>C
ENST00000531642.5:c.354T>C
NM_000352.4:c.4323T>C	NP_000343.2:p.Pro1441=
NM_001287174.1:c.4326T>C	NP_001274103.1:p.Pro1442=
XM_011520331.1:c.4323T>C	XP_011518633.1:p.Pro1441=
XM_011520332.1:c.4310+350T>C	XP_011518634.1:n.4310+350T>C
XM_011520333.1:c.2823T>C	XP_011518635.1:p.Pro941=
XR_930890.1:n.4373+350T>C
NM_001351295.1:c.4389T>C	NP_001338224.1:p.Pro1463=
NM_001351296.1:c.4323T>C	NP_001338225.1:p.Pro1441=
NM_001351297.1:c.4320T>C	NP_001338226.1:p.Pro1440=
NR_147094.1:n.4618T>C
XM_017018197.2:c.4392T>C	XP_016873686.1:p.Pro1464=
XM_017018199.1:c.4389T>C	XP_016873688.1:p.Pro1463=
XM_017018201.2:c.4376+350T>C	XP_016873690.1:n.4376+350T>C
XM_017018202.1:c.2889T>C	XP_016873691.1:p.Pro963=
XM_017018204.1:c.2280T>C	XP_016873693.1:p.Pro760=
XM_024448668.1:c.2691T>C	XP_024304436.1:p.Pro897=
XR_001747945.2:n.4448+350T>C
XR_001747946.2:n.4379+350T>C
XR_002957189.1:n.6162+350T>C
NM_000352.6:c.4323T>C MANE Select	NP_000343.2:p.Pro1441=
NM_001287174.2:c.4326T>C	NP_001274103.1:p.Pro1442=
NM_001351295.2:c.4389T>C	NP_001338224.1:p.Pro1463=
NM_001351296.2:c.4323T>C	NP_001338225.1:p.Pro1441=
NM_001351297.2:c.4320T>C	NP_001338226.1:p.Pro1440=
NR_147094.2:n.4618T>C
NM_001287174.3:c.4326T>C	NP_001274103.1:p.Pro1442=