Canonical Allele Identifier: CA458645486

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1152898
• ClinVar RCV Id: RCV001494412
• dbSNP Id: rs1238904019
• gnomAD v2: 7-150648186-G-A
• gnomAD v3: 7-150951098-G-A
• gnomAD v4: 7-150951098-G-A
• COSMIC: COSM1087286 ; COSM1154785
• MyVariant Identifiers: chr7:g.150648186G>A (hg19) ; chr7:g.150951098G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951098G>A , CM000669.2:g.150951098G>A	GRCh38
NC_000007.13:g.150648186G>A , CM000669.1:g.150648186G>A	GRCh37
NC_000007.12:g.150279119G>A	NCBI36
NG_008916.1:g.31829C>T , LRG_288:g.31829C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1266C>T
ENST00000683359.1:n.92C>T
ENST00000684241.1:n.2801C>T
ENST00000262186.10:c.1968C>T MANE Select	ENSP00000262186.5:p.Phe656=
ENST00000330883.9:c.948C>T	ENSP00000328531.4:p.Phe316=
ENST00000262186.9:c.1968C>T	ENSP00000262186.5:p.Phe656=
ENST00000330883.8:c.948C>T	ENSP00000328531.4:p.Phe316=
ENST00000430723.4:c.1620C>T	ENSP00000387657.4:p.Phe540=
ENST00000461280.1:n.1255C>T
ENST00000473610.5:n.1600C>T
ENST00000532957.5:n.2191C>T
NM_000238.3:c.1968C>T , LRG_288t1:c.1968C>T	NP_000229.1:p.Phe656=
NM_001204798.1:c.948C>T	NP_001191727.1:p.Phe316=
NM_172056.2:c.1968C>T , LRG_288t2:c.1968C>T	NP_742053.1:p.Phe656=
NM_172057.2:c.948C>T , LRG_288t3:c.948C>T	NP_742054.1:p.Phe316=
XM_011516185.1:c.1668C>T	XP_011514487.1:p.Phe556=
XM_011516186.1:c.1968C>T	XP_011514488.1:p.Phe656=
XM_011516185.2:c.1668C>T	XP_011514487.1:p.Phe556=
XM_011516186.3:c.1968C>T	XP_011514488.1:p.Phe656=
XM_017012195.1:c.1818C>T	XP_016867684.1:p.Phe606=
XM_017012196.1:c.1791C>T	XP_016867685.1:p.Phe597=
NM_000238.4:c.1968C>T MANE Select	NP_000229.1:p.Phe656=
NM_001204798.2:c.948C>T	NP_001191727.1:p.Phe316=
NM_172057.3:c.948C>T	NP_742054.1:p.Phe316=