Canonical Allele Identifier: CA1148224956

Gene: KCNH1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.210804083G= , CM000663.2:g.210804083G=	GRCh38
NC_000001.10:g.210977425G= , CM000663.1:g.210977425G=	GRCh37
NC_000001.9:g.209044048G=	NCBI36
NG_029777.1:g.335033C=
NG_029777.2:g.335033C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271751.10:c.1546C= MANE Select	ENSP00000271751.4:p.Leu516=
ENST00000367007.5:c.1465C=	ENSP00000355974.5:p.Leu489=
ENST00000638357.1:c.879C=
ENST00000638498.1:c.1546C=	ENSP00000490983.1:p.Leu516=
ENST00000638960.1:c.1465C=	ENSP00000492302.1:p.Leu489=
ENST00000639952.1:c.1465C=	ENSP00000492697.1:p.Leu489=
ENST00000640044.1:c.394C=	ENSP00000491434.1:p.Leu132=
ENST00000640243.1:c.*51C=	ENSP00000492803.1:n.*51C=
ENST00000640522.1:c.*51C=	ENSP00000491019.1:n.*51C=
ENST00000640528.1:c.1465C=	ENSP00000491725.1:p.Leu489=
ENST00000640566.1:c.311-28539C=	ENSP00000491302.1:n.311-28539C=
ENST00000640710.1:c.1465C=	ENSP00000492513.1:p.Leu489=
ENST00000271751.8:c.1546C=	ENSP00000271751.4:p.Leu516=
ENST00000367007.4:c.1465C=	ENSP00000355974.4:p.Leu489=
NM_002238.3:c.1465C=	NP_002229.1:p.Leu489=
NM_172362.2:c.1546C=	NP_758872.1:p.Leu516=
XM_011509514.1:c.370C=	XP_011507816.1:p.Leu124=
XM_017001246.1:c.370C=	XP_016856735.1:p.Leu124=
NM_172362.3:c.1546C= MANE Select	NP_758872.1:p.Leu516=
NM_002238.4:c.1465C=	NP_002229.1:p.Leu489=