Canonical Allele Identifier: CA379776040

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17482068G>C (hg19) ; chr11:g.17460521G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17460521G>C , CM000673.2:g.17460521G>C	GRCh38
NC_000011.9:g.17482068G>C , CM000673.1:g.17482068G>C	GRCh37
NC_000011.8:g.17438644G>C	NCBI36
NG_008867.1:g.21382C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.648+2917C>G
ENST00000526002.2:n.991C>G
ENST00000528202.6:n.1044C>G
ENST00000642611.2:n.1044C>G
ENST00000682051.1:n.991C>G
ENST00000682091.1:n.1953C>G
ENST00000682110.1:n.1044C>G
ENST00000682140.1:c.975C>G	ENSP00000507829.1:p.His325Gln
ENST00000682199.1:n.1044C>G
ENST00000682204.1:c.975C>G	ENSP00000507094.1:p.His325Gln
ENST00000682215.1:n.1044C>G
ENST00000682288.1:c.975C>G	ENSP00000507506.1:p.His325Gln
ENST00000682442.1:n.1078C>G
ENST00000682528.1:n.1044C>G
ENST00000682673.1:n.991C>G
ENST00000682805.1:n.1044C>G
ENST00000682863.1:n.1044C>G
ENST00000682965.1:c.975C>G	ENSP00000508229.1:p.His325Gln
ENST00000683093.1:n.1044C>G
ENST00000683136.1:c.975C>G	ENSP00000507768.1:p.His325Gln
ENST00000683153.1:n.1044C>G
ENST00000683253.1:n.1958C>G
ENST00000683365.1:n.1044C>G
ENST00000683377.1:n.1044C>G
ENST00000683456.1:c.975C>G	ENSP00000508318.1:p.His325Gln
ENST00000683522.1:n.1044C>G
ENST00000683531.1:n.1047C>G
ENST00000683562.1:c.978C>G	ENSP00000508265.1:p.His326Gln
ENST00000683693.1:n.1044C>G
ENST00000683725.1:c.978C>G	ENSP00000507496.1:p.His326Gln
ENST00000683808.1:n.314C>G
ENST00000684010.1:n.1044C>G
ENST00000684157.1:n.1044C>G
ENST00000684221.1:n.1814C>G
ENST00000684253.1:n.1096C>G
ENST00000684288.1:c.978C>G	ENSP00000507143.1:p.His326Gln
ENST00000684313.1:n.1071C>G
ENST00000684332.1:n.1044C>G
ENST00000684371.1:n.991C>G
ENST00000684404.1:n.1044C>G
ENST00000684442.1:n.1044C>G
ENST00000684555.1:c.978C>G	ENSP00000507705.1:p.His326Gln
ENST00000684571.1:c.975C>G	ENSP00000506935.1:p.His325Gln
ENST00000684593.1:c.*683C>G	ENSP00000507005.1:n.*683C>G
ENST00000684711.1:c.975C>G	ENSP00000506841.1:p.His325Gln
ENST00000302539.9:c.978C>G	ENSP00000303960.4:p.His326Gln
ENST00000389817.8:c.978C>G MANE Select	ENSP00000374467.4:p.His326Gln
ENST00000532728.6:c.854C>G
ENST00000635881.1:n.1006C>G
ENST00000642271.1:c.975C>G	ENSP00000493749.1:p.His325Gln
ENST00000642611.1:n.929C>G
ENST00000642902.1:c.959C>G
ENST00000643260.1:c.975C>G	ENSP00000494450.1:p.His325Gln
ENST00000643562.1:c.978C>G	ENSP00000496124.1:p.His326Gln
ENST00000644472.1:c.975C>G	ENSP00000495378.1:p.His325Gln
ENST00000644484.1:c.975C>G	ENSP00000493558.1:p.His325Gln
ENST00000644542.1:c.*680C>G	ENSP00000495532.1:n.*680C>G
ENST00000644649.1:c.28C>G
ENST00000644675.1:c.975C>G	ENSP00000494567.1:p.His325Gln
ENST00000644757.1:c.978C>G	ENSP00000495085.1:p.His326Gln
ENST00000644772.1:c.978C>G	ENSP00000494321.1:p.His326Gln
ENST00000645076.1:c.260C>G
ENST00000645744.1:c.975C>G	ENSP00000494564.1:p.His325Gln
ENST00000645760.1:c.1151C>G
ENST00000645884.1:c.975C>G	ENSP00000495516.1:p.His325Gln
ENST00000646003.1:c.975C>G	ENSP00000495259.1:p.His325Gln
ENST00000646207.1:c.975C>G	ENSP00000495025.1:p.His325Gln
ENST00000646276.1:c.954C>G	ENSP00000496070.1:p.His318Gln
ENST00000646592.1:c.229C>G
ENST00000646737.1:c.*1072C>G	ENSP00000494874.1:n.*1072C>G
ENST00000646902.1:c.975C>G	ENSP00000494101.1:p.His325Gln
ENST00000646993.1:c.978C>G	ENSP00000493720.1:p.His326Gln
ENST00000647013.1:c.876C>G	ENSP00000496741.1:p.His292Gln
ENST00000647015.1:c.978C>G	ENSP00000495389.1:p.His326Gln
ENST00000647086.1:c.975C>G	ENSP00000493677.1:p.His325Gln
ENST00000647158.1:c.975C>G	ENSP00000495744.1:p.His325Gln
ENST00000302539.8:c.978C>G	ENSP00000303960.4:p.His326Gln
ENST00000389817.7:c.978C>G	ENSP00000374467.3:p.His326Gln
ENST00000527905.5:c.978C>G	ENSP00000431653.1:p.His326Gln
ENST00000532728.5:n.1009C>G
NM_000352.4:c.978C>G	NP_000343.2:p.His326Gln
NM_001287174.1:c.978C>G	NP_001274103.1:p.His326Gln
XM_011520331.1:c.975C>G	XP_011518633.1:p.His325Gln
XM_011520332.1:c.978C>G	XP_011518634.1:p.His326Gln
XM_011520334.1:c.978C>G	XP_011518636.1:p.His326Gln
XR_930890.1:n.1041C>G
XR_930891.1:n.1041C>G
XR_930892.1:n.1041C>G
XR_930893.1:n.1041C>G
NM_001351295.1:c.978C>G	NP_001338224.1:p.His326Gln
NM_001351296.1:c.975C>G	NP_001338225.1:p.His325Gln
NM_001351297.1:c.975C>G	NP_001338226.1:p.His325Gln
NR_147094.1:n.1044C>G
XM_017018197.2:c.978C>G	XP_016873686.1:p.His326Gln
XM_017018199.1:c.975C>G	XP_016873688.1:p.His325Gln
XM_017018201.2:c.978C>G	XP_016873690.1:p.His326Gln
XM_017018202.1:c.-540C>G	XP_016873691.1:n.-540C>G
XM_024448668.1:c.-760C>G	XP_024304436.1:n.-760C>G
XR_001747945.2:n.1050C>G
XR_001747946.2:n.1050C>G
XR_002957189.1:n.1050C>G
NM_000352.6:c.978C>G MANE Select	NP_000343.2:p.His326Gln
NM_001287174.2:c.978C>G	NP_001274103.1:p.His326Gln
NM_001351295.2:c.978C>G	NP_001338224.1:p.His326Gln
NM_001351296.2:c.975C>G	NP_001338225.1:p.His325Gln
NM_001351297.2:c.975C>G	NP_001338226.1:p.His325Gln
NR_147094.2:n.1044C>G
NM_001287174.3:c.978C>G	NP_001274103.1:p.His326Gln