Canonical Allele Identifier: CA2484836192

Gene: KCNH1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.210920034G= , CM000663.2:g.210920034G=	GRCh38
NC_000001.10:g.211093376G= , CM000663.1:g.211093376G=	GRCh37
NC_000001.9:g.209159999G=	NCBI36
NG_029777.1:g.219082C=
NG_029777.2:g.219082C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271751.10:c.1068C= MANE Select	ENSP00000271751.4:p.Val356=
ENST00000367007.5:c.987C=	ENSP00000355974.5:p.Val329=
ENST00000638357.1:c.401C=
ENST00000638498.1:c.1068C=	ENSP00000490983.1:p.Val356=
ENST00000638960.1:c.987C=	ENSP00000492302.1:p.Val329=
ENST00000638983.1:c.952-58840C=	ENSP00000492641.1:n.952-58840C=
ENST00000639385.1:n.436C=
ENST00000639602.1:c.858C=	ENSP00000492303.1:p.Val286=
ENST00000639754.1:n.1271C=
ENST00000639952.1:c.987C=	ENSP00000492697.1:p.Val329=
ENST00000640044.1:c.311-115868C=	ENSP00000491434.1:n.311-115868C=
ENST00000640243.1:c.951+98830C=	ENSP00000492803.1:n.951+98830C=
ENST00000640522.1:c.1032+98749C=	ENSP00000491019.1:n.1032+98749C=
ENST00000640528.1:c.987C=	ENSP00000491725.1:p.Val329=
ENST00000640566.1:c.311-144490C=	ENSP00000491302.1:n.311-144490C=
ENST00000640710.1:c.987C=	ENSP00000492513.1:p.Val329=
ENST00000640890.1:n.1089C=
ENST00000271751.8:c.1068C=	ENSP00000271751.4:p.Val356=
ENST00000367007.4:c.987C=	ENSP00000355974.4:p.Val329=
NM_002238.3:c.987C=	NP_002229.1:p.Val329=
NM_172362.2:c.1068C=	NP_758872.1:p.Val356=
XM_011509514.1:c.-109C=	XP_011507816.1:n.-109C=
XM_017001246.1:c.-109C=	XP_016856735.1:n.-109C=
NM_172362.3:c.1068C= MANE Select	NP_758872.1:p.Val356=
NM_002238.4:c.987C=	NP_002229.1:p.Val329=