Canonical Allele Identifier: CA3085360276

Gene: KCNH1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.210683435G= , CM000663.2:g.210683435G=	GRCh38
NC_000001.10:g.210856777G= , CM000663.1:g.210856777G=	GRCh37
NC_000001.9:g.208923400G=	NCBI36
NG_029777.1:g.455681C=
NG_029777.2:g.455681C=

Transcript Alleles

HGVS	Amino-acid Change
NM_172362.3:c.2816C= MANE Select	NP_758872.1:p.Ala939=
ENST00000271751.10:c.2816C= MANE Select	ENSP00000271751.4:p.Ala939=
NM_002238.3:c.2735C=	NP_002229.1:p.Ala912=
NM_002238.4:c.2735C=	NP_002229.1:p.Ala912=
NM_172362.2:c.2816C=	NP_758872.1:p.Ala939=
ENST00000271751.8:c.2816C=	ENSP00000271751.4:p.Ala939=
ENST00000367007.4:c.2735C=	ENSP00000355974.4:p.Ala912=
ENST00000367007.5:c.2703+32C=	ENSP00000355974.5:n.2703+32C=
ENST00000638357.1:c.1952C=
ENST00000638498.1:c.2784+32C=	ENSP00000490983.1:n.2784+32C=
ENST00000638960.1:c.2735C=	ENSP00000492302.1:p.Ala912=
ENST00000639952.1:c.2735C=	ENSP00000492697.1:p.Ala912=
ENST00000640044.1:c.1664C=	ENSP00000491434.1:p.Ala555=
ENST00000640243.1:c.*1321C=	ENSP00000492803.1:n.*1321C=
ENST00000640528.1:c.2735C=	ENSP00000491725.1:p.Ala912=
ENST00000640566.1:c.1211C=	ENSP00000491302.1:p.Ala404=
ENST00000640625.1:c.463+32C=
ENST00000640710.1:c.2735C=	ENSP00000492513.1:p.Ala912=
XM_011509514.1:c.1640C=	XP_011507816.1:p.Ala547=
XM_017001246.1:c.1640C=	XP_016856735.1:p.Ala547=