Canonical Allele Identifier: CA215108

Gene: KCNH1

Linked Data

• ClinVar Variation Id: 183418
• ClinVar RCV Id: RCV001420320 ; RCV002464134 ; RCV002498803
• dbSNP Id: rs730882175
• gnomAD v4: 1-210804143-C-T
• COSMIC: COSM5511641
• MyVariant Identifiers: chr1:g.210977485C>T (hg19) ; chr1:g.210804143C>T (hg38)
• PubMed: PMID:9738473 ; PMID:18203178 ; PMID:23424202 ; PMID:25420144 ; PMID:25711872 ; PMID:25915598 ; PMID:26264464 ; PMID:26818738

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.210804143C>T , CM000663.2:g.210804143C>T	GRCh38
NC_000001.10:g.210977485C>T , CM000663.1:g.210977485C>T	GRCh37
NC_000001.9:g.209044108C>T	NCBI36
NG_029777.1:g.334973G>A
NG_029777.2:g.334973G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000271751.10:c.1486G>A MANE Select	ENSP00000271751.4:p.Gly496Arg
ENST00000367007.5:c.1405G>A	ENSP00000355974.5:p.Gly469Arg
ENST00000638357.1:c.819G>A
ENST00000638498.1:c.1486G>A	ENSP00000490983.1:p.Gly496Arg
ENST00000638960.1:c.1405G>A	ENSP00000492302.1:p.Gly469Arg
ENST00000639952.1:c.1405G>A	ENSP00000492697.1:p.Gly469Arg
ENST00000640044.1:c.334G>A	ENSP00000491434.1:p.Gly112Arg
ENST00000640243.1:c.975G>A	ENSP00000492803.1:p.Ser325=
ENST00000640522.1:c.1056G>A	ENSP00000491019.1:p.Ser352=
ENST00000640528.1:c.1405G>A	ENSP00000491725.1:p.Gly469Arg
ENST00000640566.1:c.311-28599G>A	ENSP00000491302.1:n.311-28599G>A
ENST00000640710.1:c.1405G>A	ENSP00000492513.1:p.Gly469Arg
ENST00000271751.8:c.1486G>A	ENSP00000271751.4:p.Gly496Arg
ENST00000367007.4:c.1405G>A	ENSP00000355974.4:p.Gly469Arg
NM_002238.3:c.1405G>A	NP_002229.1:p.Gly469Arg
NM_172362.2:c.1486G>A	NP_758872.1:p.Gly496Arg
XM_011509514.1:c.310G>A	XP_011507816.1:p.Gly104Arg
XM_017001246.1:c.310G>A	XP_016856735.1:p.Gly104Arg
NM_172362.3:c.1486G>A MANE Select	NP_758872.1:p.Gly496Arg
NM_002238.4:c.1405G>A	NP_002229.1:p.Gly469Arg