Canonical Allele Identifier: CA344874351

Gene: KCNH1

Linked Data

• COSMIC: COSM678750
• MyVariant Identifiers: chr1:g.211093411C>A (hg19) ; chr1:g.210920069C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.210920069C>A , CM000663.2:g.210920069C>A	GRCh38
NC_000001.10:g.211093411C>A , CM000663.1:g.211093411C>A	GRCh37
NC_000001.9:g.209160034C>A	NCBI36
NG_029777.1:g.219047G>T
NG_029777.2:g.219047G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271751.10:c.1033G>T MANE Select	ENSP00000271751.4:p.Gly345Cys
ENST00000367007.5:c.952G>T	ENSP00000355974.5:p.Gly318Cys
ENST00000638357.1:c.366G>T
ENST00000638498.1:c.1033G>T	ENSP00000490983.1:p.Gly345Cys
ENST00000638960.1:c.952G>T	ENSP00000492302.1:p.Gly318Cys
ENST00000638983.1:c.952-58875G>T	ENSP00000492641.1:n.952-58875G>T
ENST00000639385.1:n.409-8G>T
ENST00000639602.1:c.823G>T	ENSP00000492303.1:p.Gly275Cys
ENST00000639754.1:n.1236G>T
ENST00000639952.1:c.952G>T	ENSP00000492697.1:p.Gly318Cys
ENST00000640044.1:c.311-115903G>T	ENSP00000491434.1:n.311-115903G>T
ENST00000640243.1:c.951+98795G>T	ENSP00000492803.1:n.951+98795G>T
ENST00000640522.1:c.1032+98714G>T	ENSP00000491019.1:n.1032+98714G>T
ENST00000640528.1:c.952G>T	ENSP00000491725.1:p.Gly318Cys
ENST00000640566.1:c.311-144525G>T	ENSP00000491302.1:n.311-144525G>T
ENST00000640710.1:c.952G>T	ENSP00000492513.1:p.Gly318Cys
ENST00000640890.1:n.1054G>T
ENST00000271751.8:c.1033G>T	ENSP00000271751.4:p.Gly345Cys
ENST00000367007.4:c.952G>T	ENSP00000355974.4:p.Gly318Cys
NM_002238.3:c.952G>T	NP_002229.1:p.Gly318Cys
NM_172362.2:c.1033G>T	NP_758872.1:p.Gly345Cys
XM_011509514.1:c.-144G>T	XP_011507816.1:n.-144G>T
XM_017001246.1:c.-144G>T	XP_016856735.1:n.-144G>T
NM_172362.3:c.1033G>T MANE Select	NP_758872.1:p.Gly345Cys
NM_002238.4:c.952G>T	NP_002229.1:p.Gly318Cys