Canonical Allele Identifier: CA1140650678

Gene: KCNH1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.210920019A= , CM000663.2:g.210920019A=	GRCh38
NC_000001.10:g.211093361A= , CM000663.1:g.211093361A=	GRCh37
NC_000001.9:g.209159984A=	NCBI36
NG_029777.1:g.219097T=
NG_029777.2:g.219097T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271751.10:c.1083T= MANE Select	ENSP00000271751.4:p.Leu361=
ENST00000367007.5:c.1002T=	ENSP00000355974.5:p.Leu334=
ENST00000638357.1:c.416T=
ENST00000638498.1:c.1083T=	ENSP00000490983.1:p.Leu361=
ENST00000638960.1:c.1002T=	ENSP00000492302.1:p.Leu334=
ENST00000638983.1:c.952-58825T=	ENSP00000492641.1:n.952-58825T=
ENST00000639385.1:n.451T=
ENST00000639602.1:c.873T=	ENSP00000492303.1:p.Leu291=
ENST00000639754.1:n.1286T=
ENST00000639952.1:c.1002T=	ENSP00000492697.1:p.Leu334=
ENST00000640044.1:c.311-115853T=	ENSP00000491434.1:n.311-115853T=
ENST00000640243.1:c.951+98845T=	ENSP00000492803.1:n.951+98845T=
ENST00000640522.1:c.1032+98764T=	ENSP00000491019.1:n.1032+98764T=
ENST00000640528.1:c.1002T=	ENSP00000491725.1:p.Leu334=
ENST00000640566.1:c.311-144475T=	ENSP00000491302.1:n.311-144475T=
ENST00000640710.1:c.1002T=	ENSP00000492513.1:p.Leu334=
ENST00000640890.1:n.1104T=
ENST00000271751.8:c.1083T=	ENSP00000271751.4:p.Leu361=
ENST00000367007.4:c.1002T=	ENSP00000355974.4:p.Leu334=
NM_002238.3:c.1002T=	NP_002229.1:p.Leu334=
NM_172362.2:c.1083T=	NP_758872.1:p.Leu361=
XM_011509514.1:c.-94T=	XP_011507816.1:n.-94T=
XM_017001246.1:c.-94T=	XP_016856735.1:n.-94T=
NM_172362.3:c.1083T= MANE Select	NP_758872.1:p.Leu361=
NM_002238.4:c.1002T=	NP_002229.1:p.Leu334=