Canonical Allele Identifier: CA006035

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67337
• ClinVar RCV Id: RCV000058056 ; RCV000803218
• dbSNP Id: rs199472971
• COSMIC: COSM1087287 ; COSM1596877 ; COSM4872014
• MyVariant Identifiers: chr7:g.150648559G>A (hg19) ; chr7:g.150951471G>A (hg38)
• PubMed: PMID:15840476 ; PMID:19841300 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951471G>A , CM000669.2:g.150951471G>A	GRCh38
NC_000007.13:g.150648559G>A , CM000669.1:g.150648559G>A	GRCh37
NC_000007.12:g.150279492G>A	NCBI36
NG_008916.1:g.31456C>T , LRG_288:g.31456C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1220C>T
ENST00000683359.1:n.46C>T
ENST00000684241.1:n.2755C>T
ENST00000262186.10:c.1922C>T MANE Select	ENSP00000262186.5:p.Ser641Phe
ENST00000330883.9:c.902C>T	ENSP00000328531.4:p.Ser301Phe
ENST00000262186.9:c.1922C>T	ENSP00000262186.5:p.Ser641Phe
ENST00000330883.8:c.902C>T	ENSP00000328531.4:p.Ser301Phe
ENST00000430723.4:c.1574C>T	ENSP00000387657.4:p.Ser525Phe
ENST00000461280.1:n.1209C>T
ENST00000473610.5:n.1227C>T
ENST00000532957.5:n.2145C>T
NM_000238.3:c.1922C>T , LRG_288t1:c.1922C>T	NP_000229.1:p.Ser641Phe
NM_001204798.1:c.902C>T	NP_001191727.1:p.Ser301Phe
NM_172056.2:c.1922C>T , LRG_288t2:c.1922C>T	NP_742053.1:p.Ser641Phe
NM_172057.2:c.902C>T , LRG_288t3:c.902C>T	NP_742054.1:p.Ser301Phe
XM_011516185.1:c.1622C>T	XP_011514487.1:p.Ser541Phe
XM_011516186.1:c.1922C>T	XP_011514488.1:p.Ser641Phe
XM_011516185.2:c.1622C>T	XP_011514487.1:p.Ser541Phe
XM_011516186.3:c.1922C>T	XP_011514488.1:p.Ser641Phe
XM_017012195.1:c.1772C>T	XP_016867684.1:p.Ser591Phe
XM_017012196.1:c.1745C>T	XP_016867685.1:p.Ser582Phe
NM_000238.4:c.1922C>T MANE Select	NP_000229.1:p.Ser641Phe
NM_001204798.2:c.902C>T	NP_001191727.1:p.Ser301Phe
NM_172057.3:c.902C>T	NP_742054.1:p.Ser301Phe