Canonical Allele Identifier: CA2484836156

Gene: KCNH1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.210919893A= , CM000663.2:g.210919893A=	GRCh38
NC_000001.10:g.211093235A= , CM000663.1:g.211093235A=	GRCh37
NC_000001.9:g.209159858A=	NCBI36
NG_029777.1:g.219223T=
NG_029777.2:g.219223T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000271751.10:c.1209T= MANE Select	ENSP00000271751.4:p.Tyr403=
ENST00000367007.5:c.1128T=	ENSP00000355974.5:p.Tyr376=
ENST00000638357.1:c.542T=
ENST00000638498.1:c.1209T=	ENSP00000490983.1:p.Tyr403=
ENST00000638960.1:c.1128T=	ENSP00000492302.1:p.Tyr376=
ENST00000638983.1:c.952-58699T=	ENSP00000492641.1:n.952-58699T=
ENST00000639385.1:n.577T=
ENST00000639602.1:c.999T=	ENSP00000492303.1:p.Tyr333=
ENST00000639754.1:n.1412T=
ENST00000639952.1:c.1128T=	ENSP00000492697.1:p.Tyr376=
ENST00000640044.1:c.311-115727T=	ENSP00000491434.1:n.311-115727T=
ENST00000640243.1:c.951+98971T=	ENSP00000492803.1:n.951+98971T=
ENST00000640522.1:c.1032+98890T=	ENSP00000491019.1:n.1032+98890T=
ENST00000640528.1:c.1128T=	ENSP00000491725.1:p.Tyr376=
ENST00000640566.1:c.311-144349T=	ENSP00000491302.1:n.311-144349T=
ENST00000640710.1:c.1128T=	ENSP00000492513.1:p.Tyr376=
ENST00000640890.1:n.1230T=
ENST00000271751.8:c.1209T=	ENSP00000271751.4:p.Tyr403=
ENST00000367007.4:c.1128T=	ENSP00000355974.4:p.Tyr376=
NM_002238.3:c.1128T=	NP_002229.1:p.Tyr376=
NM_172362.2:c.1209T=	NP_758872.1:p.Tyr403=
XM_011509514.1:c.33T=	XP_011507816.1:p.Tyr11=
XM_017001246.1:c.33T=	XP_016856735.1:p.Tyr11=
NM_172362.3:c.1209T= MANE Select	NP_758872.1:p.Tyr403=
NM_002238.4:c.1128T=	NP_002229.1:p.Tyr376=