Canonical Allele Identifier: CA379783060

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17415863T>G (hg19) ; chr11:g.17394316T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17394316T>G , CM000673.2:g.17394316T>G	GRCh38
NC_000011.9:g.17415863T>G , CM000673.1:g.17415863T>G	GRCh37
NC_000011.8:g.17372439T>G	NCBI36
NG_008867.1:g.87587A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4096A>C
ENST00000526037.6:n.430A>C
ENST00000528374.2:c.1086A>C
ENST00000529967.6:n.2834A>C
ENST00000532220.2:n.3728A>C
ENST00000642611.2:n.5828A>C
ENST00000644057.2:n.1071A>C
ENST00000645004.2:n.1994A>C
ENST00000682051.1:n.4657A>C
ENST00000682110.1:n.4710A>C
ENST00000682140.1:c.*281A>C	ENSP00000507829.1:n.*281A>C
ENST00000682185.1:n.5800A>C
ENST00000682204.1:c.*2633A>C	ENSP00000507094.1:n.*2633A>C
ENST00000682215.1:n.5077A>C
ENST00000682288.1:c.*2926A>C	ENSP00000507506.1:n.*2926A>C
ENST00000682442.1:n.4930A>C
ENST00000682528.1:n.4787A>C
ENST00000682673.1:n.4654A>C
ENST00000682805.1:n.5115A>C
ENST00000682965.1:c.*917A>C	ENSP00000508229.1:n.*917A>C
ENST00000683093.1:n.5690A>C
ENST00000683136.1:c.4378A>C	ENSP00000507768.1:p.Thr1460Pro
ENST00000683153.1:n.4752A>C
ENST00000683365.1:n.4812A>C
ENST00000683377.1:n.4606A>C
ENST00000683456.1:c.*1632A>C	ENSP00000508318.1:n.*1632A>C
ENST00000683522.1:n.4792A>C
ENST00000683562.1:c.*2560A>C	ENSP00000508265.1:n.*2560A>C
ENST00000683693.1:n.6171A>C
ENST00000683725.1:c.4391A>C	ENSP00000507496.1:p.Asp1464Ala
ENST00000684010.1:n.4705A>C
ENST00000684014.1:n.682A>C
ENST00000684157.1:n.5695A>C
ENST00000684253.1:n.4613A>C
ENST00000684288.1:c.*2667A>C	ENSP00000507143.1:n.*2667A>C
ENST00000684313.1:n.4142A>C
ENST00000684332.1:n.4783A>C
ENST00000684371.1:n.4816A>C
ENST00000684404.1:n.5738A>C
ENST00000684442.1:n.4934A>C
ENST00000684555.1:c.*2707A>C	ENSP00000507705.1:n.*2707A>C
ENST00000684571.1:c.4336A>C	ENSP00000506935.1:p.Thr1446Pro
ENST00000684593.1:c.*4200A>C	ENSP00000507005.1:n.*4200A>C
ENST00000684711.1:c.*2891A>C	ENSP00000506841.1:n.*2891A>C
ENST00000302539.9:c.4498A>C	ENSP00000303960.4:p.Thr1500Pro
ENST00000389817.8:c.4495A>C MANE Select	ENSP00000374467.4:p.Thr1499Pro
ENST00000642271.1:c.4492A>C	ENSP00000493749.1:p.Thr1498Pro
ENST00000642579.1:c.2549A>C
ENST00000642611.1:n.5713A>C
ENST00000642902.1:c.4277A>C
ENST00000643260.1:c.4495A>C	ENSP00000494450.1:p.Thr1499Pro
ENST00000643562.1:c.*2617A>C	ENSP00000496124.1:n.*2617A>C
ENST00000643925.1:c.3135A>C
ENST00000644057.1:n.654A>C
ENST00000644484.1:c.*3881A>C	ENSP00000493558.1:n.*3881A>C
ENST00000644675.1:c.*2667A>C	ENSP00000494567.1:n.*2667A>C
ENST00000644757.1:c.*3203-1336A>C	ENSP00000495085.1:n.*3203-1336A>C
ENST00000644772.1:c.4561A>C	ENSP00000494321.1:p.Thr1521Pro
ENST00000645004.1:n.2188A>C
ENST00000645076.1:c.3590A>C
ENST00000645417.1:c.1683A>C
ENST00000645744.1:c.*4180A>C	ENSP00000494564.1:n.*4180A>C
ENST00000645760.1:c.4916A>C
ENST00000645884.1:c.*1778A>C	ENSP00000495516.1:n.*1778A>C
ENST00000646003.1:c.*2517A>C	ENSP00000495259.1:n.*2517A>C
ENST00000646207.1:c.*3332A>C	ENSP00000495025.1:n.*3332A>C
ENST00000646276.1:c.*3899A>C	ENSP00000496070.1:n.*3899A>C
ENST00000646592.1:c.3801A>C
ENST00000646902.1:c.4462A>C	ENSP00000494101.1:p.Thr1488Pro
ENST00000646993.1:c.*2933A>C	ENSP00000493720.1:n.*2933A>C
ENST00000647013.1:c.4501A>C	ENSP00000496741.1:n.4501A>C
ENST00000647015.1:c.4246A>C	ENSP00000495389.1:p.Thr1416Pro
ENST00000647086.1:c.*4081A>C	ENSP00000493677.1:n.*4081A>C
ENST00000647158.1:c.*2782A>C	ENSP00000495744.1:n.*2782A>C
ENST00000302539.8:c.4498A>C	ENSP00000303960.4:p.Thr1500Pro
ENST00000389817.7:c.4495A>C	ENSP00000374467.3:p.Thr1499Pro
ENST00000525022.1:n.390A>C
ENST00000526037.5:n.255A>C
ENST00000526168.5:c.283A>C
ENST00000531642.5:c.526A>C
NM_000352.4:c.4495A>C	NP_000343.2:p.Thr1499Pro
NM_001287174.1:c.4498A>C	NP_001274103.1:p.Thr1500Pro
XM_011520331.1:c.4495A>C	XP_011518633.1:p.Thr1499Pro
XM_011520332.1:c.4394A>C	XP_011518634.1:p.Asp1465Ala
XM_011520333.1:c.2995A>C	XP_011518635.1:p.Thr999Pro
XR_930890.1:n.4457A>C
NM_001351295.1:c.4561A>C	NP_001338224.1:p.Thr1521Pro
NM_001351296.1:c.4495A>C	NP_001338225.1:p.Thr1499Pro
NM_001351297.1:c.4492A>C	NP_001338226.1:p.Thr1498Pro
NR_147094.1:n.4790A>C
XM_017018197.2:c.4564A>C	XP_016873686.1:p.Thr1522Pro
XM_017018199.1:c.4561A>C	XP_016873688.1:p.Thr1521Pro
XM_017018201.2:c.4460A>C	XP_016873690.1:p.Asp1487Ala
XM_017018202.1:c.3061A>C	XP_016873691.1:p.Thr1021Pro
XM_017018204.1:c.2452A>C	XP_016873693.1:p.Thr818Pro
XM_024448668.1:c.2863A>C	XP_024304436.1:p.Thr955Pro
XR_001747945.2:n.4532A>C
XR_001747946.2:n.4463A>C
XR_002957189.1:n.6246A>C
NM_000352.6:c.4495A>C MANE Select	NP_000343.2:p.Thr1499Pro
NM_001287174.2:c.4498A>C	NP_001274103.1:p.Thr1500Pro
NM_001351295.2:c.4561A>C	NP_001338224.1:p.Thr1521Pro
NM_001351296.2:c.4495A>C	NP_001338225.1:p.Thr1499Pro
NM_001351297.2:c.4492A>C	NP_001338226.1:p.Thr1498Pro
NR_147094.2:n.4790A>C
NM_001287174.3:c.4498A>C	NP_001274103.1:p.Thr1500Pro