Canonical Allele Identifier: CA344873564

Gene: KCNH1

Linked Data

• gnomAD v4: 1-210919889-T-A
• MyVariant Identifiers: chr1:g.211093231T>A (hg19) ; chr1:g.210919889T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.210919889T>A , CM000663.2:g.210919889T>A	GRCh38
NC_000001.10:g.211093231T>A , CM000663.1:g.211093231T>A	GRCh37
NC_000001.9:g.209159854T>A	NCBI36
NG_029777.1:g.219227A>T
NG_029777.2:g.219227A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000271751.10:c.1213A>T MANE Select	ENSP00000271751.4:p.Ile405Phe
ENST00000367007.5:c.1132A>T	ENSP00000355974.5:p.Ile378Phe
ENST00000638357.1:c.546A>T
ENST00000638498.1:c.1213A>T	ENSP00000490983.1:p.Ile405Phe
ENST00000638960.1:c.1132A>T	ENSP00000492302.1:p.Ile378Phe
ENST00000638983.1:c.952-58695A>T	ENSP00000492641.1:n.952-58695A>T
ENST00000639385.1:n.581A>T
ENST00000639602.1:c.1003A>T	ENSP00000492303.1:p.Ile335Phe
ENST00000639754.1:n.1416A>T
ENST00000639952.1:c.1132A>T	ENSP00000492697.1:p.Ile378Phe
ENST00000640044.1:c.311-115723A>T	ENSP00000491434.1:n.311-115723A>T
ENST00000640243.1:c.951+98975A>T	ENSP00000492803.1:n.951+98975A>T
ENST00000640522.1:c.1032+98894A>T	ENSP00000491019.1:n.1032+98894A>T
ENST00000640528.1:c.1132A>T	ENSP00000491725.1:p.Ile378Phe
ENST00000640566.1:c.311-144345A>T	ENSP00000491302.1:n.311-144345A>T
ENST00000640710.1:c.1132A>T	ENSP00000492513.1:p.Ile378Phe
ENST00000640890.1:n.1234A>T
ENST00000271751.8:c.1213A>T	ENSP00000271751.4:p.Ile405Phe
ENST00000367007.4:c.1132A>T	ENSP00000355974.4:p.Ile378Phe
NM_002238.3:c.1132A>T	NP_002229.1:p.Ile378Phe
NM_172362.2:c.1213A>T	NP_758872.1:p.Ile405Phe
XM_011509514.1:c.37A>T	XP_011507816.1:p.Ile13Phe
XM_017001246.1:c.37A>T	XP_016856735.1:p.Ile13Phe
NM_172362.3:c.1213A>T MANE Select	NP_758872.1:p.Ile405Phe
NM_002238.4:c.1132A>T	NP_002229.1:p.Ile378Phe