Canonical Allele Identifier: CA344874163

Gene: KCNH1

Linked Data

• MyVariant Identifiers: chr1:g.211093369G>A (hg19) ; chr1:g.210920027G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.210920027G>A , CM000663.2:g.210920027G>A	GRCh38
NC_000001.10:g.211093369G>A , CM000663.1:g.211093369G>A	GRCh37
NC_000001.9:g.209159992G>A	NCBI36
NG_029777.1:g.219089C>T
NG_029777.2:g.219089C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271751.10:c.1075C>T MANE Select	ENSP00000271751.4:p.Leu359Phe
ENST00000367007.5:c.994C>T	ENSP00000355974.5:p.Leu332Phe
ENST00000638357.1:c.408C>T
ENST00000638498.1:c.1075C>T	ENSP00000490983.1:p.Leu359Phe
ENST00000638960.1:c.994C>T	ENSP00000492302.1:p.Leu332Phe
ENST00000638983.1:c.952-58833C>T	ENSP00000492641.1:n.952-58833C>T
ENST00000639385.1:n.443C>T
ENST00000639602.1:c.865C>T	ENSP00000492303.1:p.Leu289Phe
ENST00000639754.1:n.1278C>T
ENST00000639952.1:c.994C>T	ENSP00000492697.1:p.Leu332Phe
ENST00000640044.1:c.311-115861C>T	ENSP00000491434.1:n.311-115861C>T
ENST00000640243.1:c.951+98837C>T	ENSP00000492803.1:n.951+98837C>T
ENST00000640522.1:c.1032+98756C>T	ENSP00000491019.1:n.1032+98756C>T
ENST00000640528.1:c.994C>T	ENSP00000491725.1:p.Leu332Phe
ENST00000640566.1:c.311-144483C>T	ENSP00000491302.1:n.311-144483C>T
ENST00000640710.1:c.994C>T	ENSP00000492513.1:p.Leu332Phe
ENST00000640890.1:n.1096C>T
ENST00000271751.8:c.1075C>T	ENSP00000271751.4:p.Leu359Phe
ENST00000367007.4:c.994C>T	ENSP00000355974.4:p.Leu332Phe
NM_002238.3:c.994C>T	NP_002229.1:p.Leu332Phe
NM_172362.2:c.1075C>T	NP_758872.1:p.Leu359Phe
XM_011509514.1:c.-102C>T	XP_011507816.1:n.-102C>T
XM_017001246.1:c.-102C>T	XP_016856735.1:n.-102C>T
NM_172362.3:c.1075C>T MANE Select	NP_758872.1:p.Leu359Phe
NM_002238.4:c.994C>T	NP_002229.1:p.Leu332Phe