Canonical Allele Identifier: CA004871

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67218
• ClinVar RCV Id: RCV000057927 ; RCV000698598 ; RCV001664237 ; RCV001269138 ; RCV002470743
• dbSNP Id: rs199472915
• gnomAD v4: 7-150951802-G-A
• COSMIC: COSM1087289 ; COSM1596875 ; COSM4864173
• MyVariant Identifiers: chr7:g.150648890G>A (hg19) ; chr7:g.150951802G>A (hg38)
• PubMed: PMID:19716085 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951802G>A , CM000669.2:g.150951802G>A	GRCh38
NC_000007.13:g.150648890G>A , CM000669.1:g.150648890G>A	GRCh37
NC_000007.12:g.150279823G>A	NCBI36
NG_008916.1:g.31125C>T , LRG_288:g.31125C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.889C>T
ENST00000684116.1:n.484C>T
ENST00000684241.1:n.2424C>T
ENST00000262186.10:c.1591C>T MANE Select	ENSP00000262186.5:p.Arg531Trp
ENST00000330883.9:c.571C>T	ENSP00000328531.4:p.Arg191Trp
ENST00000262186.9:c.1591C>T	ENSP00000262186.5:p.Arg531Trp
ENST00000330883.8:c.571C>T	ENSP00000328531.4:p.Arg191Trp
ENST00000430723.4:c.1243C>T	ENSP00000387657.4:p.Arg415Trp
ENST00000461280.1:n.878C>T
ENST00000473610.5:n.896C>T
ENST00000532957.5:n.1814C>T
NM_000238.3:c.1591C>T , LRG_288t1:c.1591C>T	NP_000229.1:p.Arg531Trp
NM_001204798.1:c.571C>T	NP_001191727.1:p.Arg191Trp
NM_172056.2:c.1591C>T , LRG_288t2:c.1591C>T	NP_742053.1:p.Arg531Trp
NM_172057.2:c.571C>T , LRG_288t3:c.571C>T	NP_742054.1:p.Arg191Trp
XM_011516185.1:c.1291C>T	XP_011514487.1:p.Arg431Trp
XM_011516186.1:c.1591C>T	XP_011514488.1:p.Arg531Trp
XM_011516185.2:c.1291C>T	XP_011514487.1:p.Arg431Trp
XM_011516186.3:c.1591C>T	XP_011514488.1:p.Arg531Trp
XM_017012195.1:c.1441C>T	XP_016867684.1:p.Arg481Trp
XM_017012196.1:c.1414C>T	XP_016867685.1:p.Arg472Trp
NM_000238.4:c.1591C>T MANE Select	NP_000229.1:p.Arg531Trp
NM_001204798.2:c.571C>T	NP_001191727.1:p.Arg191Trp
NM_172057.3:c.571C>T	NP_742054.1:p.Arg191Trp