Canonical Allele Identifier: CA1379648

Gene: KCNH1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.210683769C>T , CM000663.2:g.210683769C>T	GRCh38
NC_000001.10:g.210857111C>T , CM000663.1:g.210857111C>T	GRCh37
NC_000001.9:g.208923734C>T	NCBI36
NG_029777.1:g.455347G>A
NG_029777.2:g.455347G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_172362.3:c.2482G>A MANE Select	NP_758872.1:p.Gly828Arg
ENST00000271751.10:c.2482G>A MANE Select	ENSP00000271751.4:p.Gly828Arg
NM_002238.3:c.2401G>A	NP_002229.1:p.Gly801Arg
NM_002238.4:c.2401G>A	NP_002229.1:p.Gly801Arg
NM_172362.2:c.2482G>A	NP_758872.1:p.Gly828Arg
ENST00000271751.8:c.2482G>A	ENSP00000271751.4:p.Gly828Arg
ENST00000367007.4:c.2401G>A	ENSP00000355974.4:p.Gly801Arg
ENST00000367007.5:c.2401G>A	ENSP00000355974.5:p.Gly801Arg
ENST00000638357.1:c.1618G>A
ENST00000638498.1:c.2482G>A	ENSP00000490983.1:p.Gly828Arg
ENST00000638960.1:c.2401G>A	ENSP00000492302.1:p.Gly801Arg
ENST00000639952.1:c.2401G>A	ENSP00000492697.1:p.Gly801Arg
ENST00000640044.1:c.1330G>A	ENSP00000491434.1:p.Gly444Arg
ENST00000640243.1:c.*987G>A	ENSP00000492803.1:n.*987G>A
ENST00000640528.1:c.2401G>A	ENSP00000491725.1:p.Gly801Arg
ENST00000640566.1:c.877G>A	ENSP00000491302.1:p.Gly293Arg
ENST00000640625.1:c.161G>A
ENST00000640710.1:c.2401G>A	ENSP00000492513.1:p.Gly801Arg
XM_011509514.1:c.1306G>A	XP_011507816.1:p.Gly436Arg
XM_017001246.1:c.1306G>A	XP_016856735.1:p.Gly436Arg