Canonical Allele Identifier: CA344873232

Gene: KCNH1

Linked Data

• MyVariant Identifiers: chr1:g.211093123C>T (hg19) ; chr1:g.210919781C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.210919781C>T , CM000663.2:g.210919781C>T	GRCh38
NC_000001.10:g.211093123C>T , CM000663.1:g.211093123C>T	GRCh37
NC_000001.9:g.209159746C>T	NCBI36
NG_029777.1:g.219335G>A
NG_029777.2:g.219335G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000271751.10:c.1321G>A MANE Select	ENSP00000271751.4:p.Glu441Lys
ENST00000367007.5:c.1240G>A	ENSP00000355974.5:p.Glu414Lys
ENST00000638357.1:c.654G>A
ENST00000638498.1:c.1321G>A	ENSP00000490983.1:p.Glu441Lys
ENST00000638960.1:c.1240G>A	ENSP00000492302.1:p.Glu414Lys
ENST00000638983.1:c.952-58587G>A	ENSP00000492641.1:n.952-58587G>A
ENST00000639385.1:n.689G>A
ENST00000639602.1:c.1111G>A	ENSP00000492303.1:p.Glu371Lys
ENST00000639754.1:n.1524G>A
ENST00000639952.1:c.1240G>A	ENSP00000492697.1:p.Glu414Lys
ENST00000640044.1:c.311-115615G>A	ENSP00000491434.1:n.311-115615G>A
ENST00000640243.1:c.951+99083G>A	ENSP00000492803.1:n.951+99083G>A
ENST00000640522.1:c.1032+99002G>A	ENSP00000491019.1:n.1032+99002G>A
ENST00000640528.1:c.1240G>A	ENSP00000491725.1:p.Glu414Lys
ENST00000640566.1:c.311-144237G>A	ENSP00000491302.1:n.311-144237G>A
ENST00000640710.1:c.1240G>A	ENSP00000492513.1:p.Glu414Lys
ENST00000640890.1:n.1342G>A
ENST00000271751.8:c.1321G>A	ENSP00000271751.4:p.Glu441Lys
ENST00000367007.4:c.1240G>A	ENSP00000355974.4:p.Glu414Lys
NM_002238.3:c.1240G>A	NP_002229.1:p.Glu414Lys
NM_172362.2:c.1321G>A	NP_758872.1:p.Glu441Lys
XM_011509514.1:c.145G>A	XP_011507816.1:p.Glu49Lys
XM_017001246.1:c.145G>A	XP_016856735.1:p.Glu49Lys
NM_172362.3:c.1321G>A MANE Select	NP_758872.1:p.Glu441Lys
NM_002238.4:c.1240G>A	NP_002229.1:p.Glu414Lys