Canonical Allele Identifier: CA1141645046

Gene: KCNH1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.210919881G= , CM000663.2:g.210919881G=	GRCh38
NC_000001.10:g.211093223G= , CM000663.1:g.211093223G=	GRCh37
NC_000001.9:g.209159846G=	NCBI36
NG_029777.1:g.219235C=
NG_029777.2:g.219235C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000271751.10:c.1221C= MANE Select	ENSP00000271751.4:p.Asp407=
ENST00000367007.5:c.1140C=	ENSP00000355974.5:p.Asp380=
ENST00000638357.1:c.554C=
ENST00000638498.1:c.1221C=	ENSP00000490983.1:p.Asp407=
ENST00000638960.1:c.1140C=	ENSP00000492302.1:p.Asp380=
ENST00000638983.1:c.952-58687C=	ENSP00000492641.1:n.952-58687C=
ENST00000639385.1:n.589C=
ENST00000639602.1:c.1011C=	ENSP00000492303.1:p.Asp337=
ENST00000639754.1:n.1424C=
ENST00000639952.1:c.1140C=	ENSP00000492697.1:p.Asp380=
ENST00000640044.1:c.311-115715C=	ENSP00000491434.1:n.311-115715C=
ENST00000640243.1:c.951+98983C=	ENSP00000492803.1:n.951+98983C=
ENST00000640522.1:c.1032+98902C=	ENSP00000491019.1:n.1032+98902C=
ENST00000640528.1:c.1140C=	ENSP00000491725.1:p.Asp380=
ENST00000640566.1:c.311-144337C=	ENSP00000491302.1:n.311-144337C=
ENST00000640710.1:c.1140C=	ENSP00000492513.1:p.Asp380=
ENST00000640890.1:n.1242C=
ENST00000271751.8:c.1221C=	ENSP00000271751.4:p.Asp407=
ENST00000367007.4:c.1140C=	ENSP00000355974.4:p.Asp380=
NM_002238.3:c.1140C=	NP_002229.1:p.Asp380=
NM_172362.2:c.1221C=	NP_758872.1:p.Asp407=
XM_011509514.1:c.45C=	XP_011507816.1:p.Asp15=
XM_017001246.1:c.45C=	XP_016856735.1:p.Asp15=
NM_172362.3:c.1221C= MANE Select	NP_758872.1:p.Asp407=
NM_002238.4:c.1140C=	NP_002229.1:p.Asp380=