Canonical Allele Identifier: CA379805032

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17429981G>C (hg19) ; chr11:g.17408434G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17408434G>C , CM000673.2:g.17408434G>C	GRCh38
NC_000011.9:g.17429981G>C , CM000673.1:g.17429981G>C	GRCh37
NC_000011.8:g.17386557G>C	NCBI36
NG_008867.1:g.73469C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2447C>G
ENST00000529967.6:n.1037C>G
ENST00000532220.2:n.510C>G
ENST00000642611.2:n.2847C>G
ENST00000682051.1:n.2794C>G
ENST00000682110.1:n.2847C>G
ENST00000682140.1:c.2775C>G	ENSP00000507829.1:p.His925Gln
ENST00000682185.1:n.4083C>G
ENST00000682204.1:c.*916C>G	ENSP00000507094.1:n.*916C>G
ENST00000682215.1:n.2844C>G
ENST00000682288.1:c.*1209C>G	ENSP00000507506.1:n.*1209C>G
ENST00000682442.1:n.2968C>G
ENST00000682528.1:n.2844C>G
ENST00000682673.1:n.2791C>G
ENST00000682805.1:n.2844C>G
ENST00000682965.1:c.2775C>G	ENSP00000508229.1:p.His925Gln
ENST00000683093.1:n.2946C>G
ENST00000683136.1:c.2775C>G	ENSP00000507768.1:p.His925Gln
ENST00000683153.1:n.3003C>G
ENST00000683365.1:n.2949C>G
ENST00000683377.1:n.2847C>G
ENST00000683456.1:c.2778C>G	ENSP00000508318.1:p.His926Gln
ENST00000683522.1:n.2847C>G
ENST00000683562.1:c.*947C>G	ENSP00000508265.1:n.*947C>G
ENST00000683693.1:n.2844C>G
ENST00000683725.1:c.2778C>G	ENSP00000507496.1:p.His926Gln
ENST00000684010.1:n.2762C>G
ENST00000684157.1:n.2847C>G
ENST00000684253.1:n.2750C>G
ENST00000684288.1:c.*950C>G	ENSP00000507143.1:n.*950C>G
ENST00000684313.1:n.2279C>G
ENST00000684332.1:n.2920C>G
ENST00000684371.1:n.2953C>G
ENST00000684404.1:n.2844C>G
ENST00000684442.1:n.2847C>G
ENST00000684555.1:c.*990C>G	ENSP00000507705.1:n.*990C>G
ENST00000684571.1:c.2619C>G	ENSP00000506935.1:p.His873Gln
ENST00000684593.1:c.*2483C>G	ENSP00000507005.1:n.*2483C>G
ENST00000684711.1:c.*1174C>G	ENSP00000506841.1:n.*1174C>G
ENST00000302539.9:c.2781C>G	ENSP00000303960.4:p.His927Gln
ENST00000389817.8:c.2778C>G MANE Select	ENSP00000374467.4:p.His926Gln
ENST00000642271.1:c.2775C>G	ENSP00000493749.1:p.His925Gln
ENST00000642579.1:c.862C>G
ENST00000642611.1:n.2732C>G
ENST00000642902.1:c.2613C>G
ENST00000643260.1:c.2778C>G	ENSP00000494450.1:p.His926Gln
ENST00000643562.1:c.*754C>G	ENSP00000496124.1:n.*754C>G
ENST00000643925.1:c.822C>G
ENST00000644447.1:c.1134C>G	ENSP00000496282.1:p.His378Gln
ENST00000644472.1:c.*1139C>G	ENSP00000495378.1:n.*1139C>G
ENST00000644484.1:c.*987C>G	ENSP00000493558.1:n.*987C>G
ENST00000644542.1:c.*2483C>G	ENSP00000495532.1:n.*2483C>G
ENST00000644675.1:c.*950C>G	ENSP00000494567.1:n.*950C>G
ENST00000644757.1:c.*1083C>G	ENSP00000495085.1:n.*1083C>G
ENST00000644772.1:c.2844C>G	ENSP00000494321.1:p.His948Gln
ENST00000645076.1:c.2030C>G
ENST00000645744.1:c.*1142C>G	ENSP00000494564.1:n.*1142C>G
ENST00000645760.1:c.3053C>G
ENST00000645884.1:c.2778C>G	ENSP00000495516.1:p.His926Gln
ENST00000646003.1:c.*834C>G	ENSP00000495259.1:n.*834C>G
ENST00000646207.1:c.*1142C>G	ENSP00000495025.1:n.*1142C>G
ENST00000646276.1:c.*1051C>G	ENSP00000496070.1:n.*1051C>G
ENST00000646592.1:c.2004C>G
ENST00000646902.1:c.2775C>G	ENSP00000494101.1:p.His925Gln
ENST00000646993.1:c.*1174C>G	ENSP00000493720.1:n.*1174C>G
ENST00000647013.1:c.2784C>G	ENSP00000496741.1:n.2784C>G
ENST00000647015.1:c.2529C>G	ENSP00000495389.1:p.His843Gln
ENST00000647086.1:c.*2508C>G	ENSP00000493677.1:n.*2508C>G
ENST00000647158.1:c.*919C>G	ENSP00000495744.1:n.*919C>G
ENST00000302539.8:c.2781C>G	ENSP00000303960.4:p.His927Gln
ENST00000389817.7:c.2778C>G	ENSP00000374467.3:p.His926Gln
ENST00000526921.5:n.462C>G
ENST00000527905.5:c.2748C>G	ENSP00000431653.1:p.His916Gln
ENST00000529967.5:n.447C>G
NM_000352.4:c.2778C>G	NP_000343.2:p.His926Gln
NM_001287174.1:c.2781C>G	NP_001274103.1:p.His927Gln
XM_011520331.1:c.2778C>G	XP_011518633.1:p.His926Gln
XM_011520332.1:c.2781C>G	XP_011518634.1:p.His927Gln
XM_011520333.1:c.1278C>G	XP_011518635.1:p.His426Gln
XM_011520334.1:c.2781C>G	XP_011518636.1:p.His927Gln
XR_930890.1:n.2844C>G
XR_930891.1:n.2844C>G
XR_930892.1:n.2844C>G
XR_930893.1:n.2841C>G
NM_001351295.1:c.2844C>G	NP_001338224.1:p.His948Gln
NM_001351296.1:c.2778C>G	NP_001338225.1:p.His926Gln
NM_001351297.1:c.2775C>G	NP_001338226.1:p.His925Gln
NR_147094.1:n.2847C>G
XM_017018197.2:c.2847C>G	XP_016873686.1:p.His949Gln
XM_017018199.1:c.2844C>G	XP_016873688.1:p.His948Gln
XM_017018201.2:c.2847C>G	XP_016873690.1:p.His949Gln
XM_017018202.1:c.1344C>G	XP_016873691.1:p.His448Gln
XM_017018204.1:c.735C>G	XP_016873693.1:p.His245Gln
XM_024448668.1:c.1146C>G	XP_024304436.1:p.His382Gln
XR_001747945.2:n.2919C>G
XR_001747946.2:n.2850C>G
XR_002957189.1:n.2919C>G
NM_000352.6:c.2778C>G MANE Select	NP_000343.2:p.His926Gln
NM_001287174.2:c.2781C>G	NP_001274103.1:p.His927Gln
NM_001351295.2:c.2844C>G	NP_001338224.1:p.His948Gln
NM_001351296.2:c.2778C>G	NP_001338225.1:p.His926Gln
NM_001351297.2:c.2775C>G	NP_001338226.1:p.His925Gln
NR_147094.2:n.2847C>G
NM_001287174.3:c.2781C>G	NP_001274103.1:p.His927Gln