Canonical Allele Identifier: CA379786648

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17417203G>C (hg19) ; chr11:g.17395656G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395656G>C , CM000673.2:g.17395656G>C	GRCh38
NC_000011.9:g.17417203G>C , CM000673.1:g.17417203G>C	GRCh37
NC_000011.8:g.17373779G>C	NCBI36
NG_008867.1:g.86247C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3862C>G
ENST00000528374.2:c.852C>G
ENST00000529967.6:n.2600C>G
ENST00000532220.2:n.3494C>G
ENST00000642611.2:n.5594C>G
ENST00000644057.2:n.837C>G
ENST00000645004.2:n.1760C>G
ENST00000682051.1:n.4423C>G
ENST00000682110.1:n.4476C>G
ENST00000682140.1:c.*47C>G	ENSP00000507829.1:n.*47C>G
ENST00000682185.1:n.5566C>G
ENST00000682204.1:c.*2399C>G	ENSP00000507094.1:n.*2399C>G
ENST00000682215.1:n.4843C>G
ENST00000682288.1:c.*2692C>G	ENSP00000507506.1:n.*2692C>G
ENST00000682442.1:n.4696C>G
ENST00000682528.1:n.4553C>G
ENST00000682673.1:n.4420C>G
ENST00000682805.1:n.4881C>G
ENST00000682965.1:c.*683C>G	ENSP00000508229.1:n.*683C>G
ENST00000683093.1:n.5560C>G
ENST00000683136.1:c.4144C>G	ENSP00000507768.1:p.Leu1382Val
ENST00000683153.1:n.4518C>G
ENST00000683365.1:n.4578C>G
ENST00000683377.1:n.4476C>G
ENST00000683456.1:c.*1398C>G	ENSP00000508318.1:n.*1398C>G
ENST00000683522.1:n.4476C>G
ENST00000683562.1:c.*2430C>G	ENSP00000508265.1:n.*2430C>G
ENST00000683693.1:n.6041C>G
ENST00000683725.1:c.4261C>G	ENSP00000507496.1:p.Leu1421Val
ENST00000684010.1:n.4471C>G
ENST00000684157.1:n.5461C>G
ENST00000684253.1:n.4379C>G
ENST00000684288.1:c.*2433C>G	ENSP00000507143.1:n.*2433C>G
ENST00000684313.1:n.3908C>G
ENST00000684332.1:n.4549C>G
ENST00000684371.1:n.4582C>G
ENST00000684404.1:n.5504C>G
ENST00000684442.1:n.4700C>G
ENST00000684555.1:c.*2473C>G	ENSP00000507705.1:n.*2473C>G
ENST00000684571.1:c.4102C>G	ENSP00000506935.1:p.Leu1368Val
ENST00000684593.1:c.*3966C>G	ENSP00000507005.1:n.*3966C>G
ENST00000684711.1:c.*2657C>G	ENSP00000506841.1:n.*2657C>G
ENST00000302539.9:c.4264C>G	ENSP00000303960.4:p.Leu1422Val
ENST00000389817.8:c.4261C>G MANE Select	ENSP00000374467.4:p.Leu1421Val
ENST00000642271.1:c.4258C>G	ENSP00000493749.1:p.Leu1420Val
ENST00000642579.1:c.2315C>G
ENST00000642611.1:n.5479C>G
ENST00000642902.1:c.4043C>G
ENST00000643260.1:c.4261C>G	ENSP00000494450.1:p.Leu1421Val
ENST00000643562.1:c.*2383C>G	ENSP00000496124.1:n.*2383C>G
ENST00000643925.1:c.2901C>G
ENST00000644057.1:n.338C>G
ENST00000644484.1:c.*3647C>G	ENSP00000493558.1:n.*3647C>G
ENST00000644675.1:c.*2433C>G	ENSP00000494567.1:n.*2433C>G
ENST00000644757.1:c.*3202+608C>G	ENSP00000495085.1:n.*3202+608C>G
ENST00000644772.1:c.4327C>G	ENSP00000494321.1:p.Leu1443Val
ENST00000645004.1:n.1954C>G
ENST00000645076.1:c.3460C>G
ENST00000645417.1:c.1449C>G
ENST00000645744.1:c.*3964-18C>G	ENSP00000494564.1:n.*3964-18C>G
ENST00000645760.1:c.4682C>G
ENST00000645884.1:c.*1544C>G	ENSP00000495516.1:n.*1544C>G
ENST00000646003.1:c.*2301-18C>G	ENSP00000495259.1:n.*2301-18C>G
ENST00000646207.1:c.*3098C>G	ENSP00000495025.1:n.*3098C>G
ENST00000646276.1:c.*3665C>G	ENSP00000496070.1:n.*3665C>G
ENST00000646592.1:c.3567C>G
ENST00000646902.1:c.4228C>G	ENSP00000494101.1:p.Leu1410Val
ENST00000646993.1:c.*2803C>G	ENSP00000493720.1:n.*2803C>G
ENST00000647013.1:c.4267C>G	ENSP00000496741.1:n.4267C>G
ENST00000647015.1:c.4012C>G	ENSP00000495389.1:p.Leu1338Val
ENST00000647086.1:c.*3847C>G	ENSP00000493677.1:n.*3847C>G
ENST00000647158.1:c.*2548C>G	ENSP00000495744.1:n.*2548C>G
ENST00000302539.8:c.4264C>G	ENSP00000303960.4:p.Leu1422Val
ENST00000389817.7:c.4261C>G	ENSP00000374467.3:p.Leu1421Val
ENST00000525022.1:n.260C>G
ENST00000526037.5:n.125C>G
ENST00000526168.5:c.67-18C>G
ENST00000531642.5:c.97C>G
NM_000352.4:c.4261C>G	NP_000343.2:p.Leu1421Val
NM_001287174.1:c.4264C>G	NP_001274103.1:p.Leu1422Val
XM_011520331.1:c.4261C>G	XP_011518633.1:p.Leu1421Val
XM_011520332.1:c.4264C>G	XP_011518634.1:p.Leu1422Val
XM_011520333.1:c.2761C>G	XP_011518635.1:p.Leu921Val
XR_930890.1:n.4327C>G
NM_001351295.1:c.4327C>G	NP_001338224.1:p.Leu1443Val
NM_001351296.1:c.4261C>G	NP_001338225.1:p.Leu1421Val
NM_001351297.1:c.4258C>G	NP_001338226.1:p.Leu1420Val
NR_147094.1:n.4556C>G
XM_017018197.2:c.4330C>G	XP_016873686.1:p.Leu1444Val
XM_017018199.1:c.4327C>G	XP_016873688.1:p.Leu1443Val
XM_017018201.2:c.4330C>G	XP_016873690.1:p.Leu1444Val
XM_017018202.1:c.2827C>G	XP_016873691.1:p.Leu943Val
XM_017018204.1:c.2218C>G	XP_016873693.1:p.Leu740Val
XM_024448668.1:c.2629C>G	XP_024304436.1:p.Leu877Val
XR_001747945.2:n.4402C>G
XR_001747946.2:n.4333C>G
XR_002957189.1:n.6116C>G
NM_000352.6:c.4261C>G MANE Select	NP_000343.2:p.Leu1421Val
NM_001287174.2:c.4264C>G	NP_001274103.1:p.Leu1422Val
NM_001351295.2:c.4327C>G	NP_001338224.1:p.Leu1443Val
NM_001351296.2:c.4261C>G	NP_001338225.1:p.Leu1421Val
NM_001351297.2:c.4258C>G	NP_001338226.1:p.Leu1420Val
NR_147094.2:n.4556C>G
NM_001287174.3:c.4264C>G	NP_001274103.1:p.Leu1422Val