Canonical Allele Identifier: CA007764

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67460
• ClinVar RCV Id: RCV000058188 ; RCV000181949 ; RCV001301364 ; RCV004019011
• dbSNP Id: rs199472855
• gnomAD v4: 7-150974719-C-T
• COSMIC: COSM3722239 ; COSM3722240
• MyVariant Identifiers: chr7:g.150671807C>T (hg19) ; chr7:g.150974719C>T (hg38)
• PubMed: PMID:15840476 ; PMID:19716085 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974719C>T , CM000669.2:g.150974719C>T	GRCh38
NC_000007.13:g.150671807C>T , CM000669.1:g.150671807C>T	GRCh37
NC_000007.12:g.150302740C>T	NCBI36
NG_008916.1:g.8208G>A , LRG_288:g.8208G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.299G>A MANE Select	ENSP00000262186.5:p.Arg100Gln
ENST00000262186.9:c.299G>A	ENSP00000262186.5:p.Arg100Gln
ENST00000430723.4:c.122G>A	ENSP00000387657.4:p.Arg41Gln
ENST00000532957.5:n.522G>A
NM_000238.3:c.299G>A , LRG_288t1:c.299G>A	NP_000229.1:p.Arg100Gln
NM_172056.2:c.299G>A , LRG_288t2:c.299G>A	NP_742053.1:p.Arg100Gln
XM_011516186.1:c.299G>A	XP_011514488.1:p.Arg100Gln
XM_011516186.3:c.299G>A	XP_011514488.1:p.Arg100Gln
XM_017012196.1:c.122G>A	XP_016867685.1:p.Arg41Gln
NM_000238.4:c.299G>A MANE Select	NP_000229.1:p.Arg100Gln