Canonical Allele Identifier: CA37124112

Gene: KCNH1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.210797675C>T , CM000663.2:g.210797675C>T	GRCh38
NC_000001.10:g.210971017C>T , CM000663.1:g.210971017C>T	GRCh37
NC_000001.9:g.209037640C>T	NCBI36
NG_029777.1:g.341441G>A
NG_029777.2:g.341441G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271751.10:c.1748G>A MANE Select	ENSP00000271751.4:p.Arg583Gln
ENST00000367007.5:c.1667G>A	ENSP00000355974.5:p.Arg556Gln
ENST00000638357.1:c.1081G>A
ENST00000638498.1:c.1748G>A	ENSP00000490983.1:p.Arg583Gln
ENST00000638960.1:c.1667G>A	ENSP00000492302.1:p.Arg556Gln
ENST00000639952.1:c.1667G>A	ENSP00000492697.1:p.Arg556Gln
ENST00000640044.1:c.596G>A	ENSP00000491434.1:p.Arg199Gln
ENST00000640243.1:c.*253G>A	ENSP00000492803.1:n.*253G>A
ENST00000640522.1:c.*253G>A	ENSP00000491019.1:n.*253G>A
ENST00000640528.1:c.1667G>A	ENSP00000491725.1:p.Arg556Gln
ENST00000640566.1:c.311-22131G>A	ENSP00000491302.1:n.311-22131G>A
ENST00000640710.1:c.1667G>A	ENSP00000492513.1:p.Arg556Gln
ENST00000271751.8:c.1748G>A	ENSP00000271751.4:p.Arg583Gln
ENST00000367007.4:c.1667G>A	ENSP00000355974.4:p.Arg556Gln
NM_002238.3:c.1667G>A	NP_002229.1:p.Arg556Gln
NM_172362.2:c.1748G>A	NP_758872.1:p.Arg583Gln
XM_011509514.1:c.572G>A	XP_011507816.1:p.Arg191Gln
XM_017001246.1:c.572G>A	XP_016856735.1:p.Arg191Gln
NM_172362.3:c.1748G>A MANE Select	NP_758872.1:p.Arg583Gln
NM_002238.4:c.1667G>A	NP_002229.1:p.Arg556Gln