Canonical Allele Identifier: CA2484788396

Gene: KCNH1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.210804111A= , CM000663.2:g.210804111A=	GRCh38
NC_000001.10:g.210977453A= , CM000663.1:g.210977453A=	GRCh37
NC_000001.9:g.209044076A=	NCBI36
NG_029777.1:g.335005T=
NG_029777.2:g.335005T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271751.10:c.1518T= MANE Select	ENSP00000271751.4:p.Tyr506=
ENST00000367007.5:c.1437T=	ENSP00000355974.5:p.Tyr479=
ENST00000638357.1:c.851T=
ENST00000638498.1:c.1518T=	ENSP00000490983.1:p.Tyr506=
ENST00000638960.1:c.1437T=	ENSP00000492302.1:p.Tyr479=
ENST00000639952.1:c.1437T=	ENSP00000492697.1:p.Tyr479=
ENST00000640044.1:c.366T=	ENSP00000491434.1:p.Tyr122=
ENST00000640243.1:c.*23T=	ENSP00000492803.1:n.*23T=
ENST00000640522.1:c.*23T=	ENSP00000491019.1:n.*23T=
ENST00000640528.1:c.1437T=	ENSP00000491725.1:p.Tyr479=
ENST00000640566.1:c.311-28567T=	ENSP00000491302.1:n.311-28567T=
ENST00000640710.1:c.1437T=	ENSP00000492513.1:p.Tyr479=
ENST00000271751.8:c.1518T=	ENSP00000271751.4:p.Tyr506=
ENST00000367007.4:c.1437T=	ENSP00000355974.4:p.Tyr479=
NM_002238.3:c.1437T=	NP_002229.1:p.Tyr479=
NM_172362.2:c.1518T=	NP_758872.1:p.Tyr506=
XM_011509514.1:c.342T=	XP_011507816.1:p.Tyr114=
XM_017001246.1:c.342T=	XP_016856735.1:p.Tyr114=
NM_172362.3:c.1518T= MANE Select	NP_758872.1:p.Tyr506=
NM_002238.4:c.1437T=	NP_002229.1:p.Tyr479=