Canonical Allele Identifier: CA344876144

Gene: KCNH1

Linked Data

• dbSNP Id: rs1442131054
• gnomAD v2: 1-211192408-C-A
• gnomAD v4: 1-211019066-C-A
• MyVariant Identifiers: chr1:g.211192408C>A (hg19) ; chr1:g.211019066C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.211019066C>A , CM000663.2:g.211019066C>A	GRCh38
NC_000001.10:g.211192408C>A , CM000663.1:g.211192408C>A	GRCh37
NC_000001.9:g.209259031C>A	NCBI36
NG_029777.1:g.120050G>T
NG_029777.2:g.120050G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000271751.10:c.749G>T MANE Select	ENSP00000271751.4:p.Trp250Leu
ENST00000367007.5:c.749G>T	ENSP00000355974.5:p.Trp250Leu
ENST00000638357.1:c.163G>T
ENST00000638498.1:c.749G>T	ENSP00000490983.1:p.Trp250Leu
ENST00000638960.1:c.749G>T	ENSP00000492302.1:p.Trp250Leu
ENST00000638983.1:c.749G>T	ENSP00000492641.1:p.Trp250Leu
ENST00000639385.1:n.125G>T
ENST00000639602.1:c.620G>T	ENSP00000492303.1:p.Trp207Leu
ENST00000639754.1:n.952G>T
ENST00000639952.1:c.749G>T	ENSP00000492697.1:p.Trp250Leu
ENST00000640044.1:c.310+84430G>T	ENSP00000491434.1:n.310+84430G>T
ENST00000640243.1:c.749G>T	ENSP00000492803.1:p.Trp250Leu
ENST00000640522.1:c.749G>T	ENSP00000491019.1:p.Trp250Leu
ENST00000640528.1:c.749G>T	ENSP00000491725.1:p.Trp250Leu
ENST00000640566.1:c.310+84430G>T	ENSP00000491302.1:n.310+84430G>T
ENST00000640710.1:c.749G>T	ENSP00000492513.1:p.Trp250Leu
ENST00000640890.1:n.851G>T
ENST00000271751.8:c.749G>T	ENSP00000271751.4:p.Trp250Leu
ENST00000367007.4:c.749G>T	ENSP00000355974.4:p.Trp250Leu
NM_002238.3:c.749G>T	NP_002229.1:p.Trp250Leu
NM_172362.2:c.749G>T	NP_758872.1:p.Trp250Leu
NM_172362.3:c.749G>T MANE Select	NP_758872.1:p.Trp250Leu
NM_002238.4:c.749G>T	NP_002229.1:p.Trp250Leu