Canonical Allele Identifier: CA369861920

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 2773456
• ClinVar RCV Id: RCV003592281 ; RCV003647992
• dbSNP Id: rs769368735
• gnomAD v4: 7-150957490-G-T
• COSMIC: COSM4161953 ; COSM4161954
• MyVariant Identifiers: chr7:g.150654578G>T (hg19) ; chr7:g.150957490G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957490G>T , CM000669.2:g.150957490G>T	GRCh38
NC_000007.13:g.150654578G>T , CM000669.1:g.150654578G>T	GRCh37
NC_000007.12:g.150285511G>T	NCBI36
NG_008916.1:g.25437C>A , LRG_288:g.25437C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1762C>A
ENST00000262186.10:c.929C>A MANE Select	ENSP00000262186.5:p.Pro310Gln
ENST00000262186.9:c.929C>A	ENSP00000262186.5:p.Pro310Gln
ENST00000430723.4:c.581C>A	ENSP00000387657.4:p.Pro194Gln
ENST00000532957.5:n.1152C>A
NM_000238.3:c.929C>A , LRG_288t1:c.929C>A	NP_000229.1:p.Pro310Gln
NM_172056.2:c.929C>A , LRG_288t2:c.929C>A	NP_742053.1:p.Pro310Gln
XM_011516185.1:c.629C>A	XP_011514487.1:p.Pro210Gln
XM_011516186.1:c.929C>A	XP_011514488.1:p.Pro310Gln
XM_011516185.2:c.629C>A	XP_011514487.1:p.Pro210Gln
XM_011516186.3:c.929C>A	XP_011514488.1:p.Pro310Gln
XM_017012195.1:c.779C>A	XP_016867684.1:p.Pro260Gln
XM_017012196.1:c.752C>A	XP_016867685.1:p.Pro251Gln
NM_000238.4:c.929C>A MANE Select	NP_000229.1:p.Pro310Gln