Canonical Allele Identifier: CA008007

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 200526
• ClinVar RCV Id: RCV000181912 ; RCV002515311
• dbSNP Id: rs794728404
• MyVariant Identifiers: chr7:g.150644449C>T (hg19) ; chr7:g.150947361C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947361C>T , CM000669.2:g.150947361C>T	GRCh38
NC_000007.13:g.150644449C>T , CM000669.1:g.150644449C>T	GRCh37
NC_000007.12:g.150275382C>T	NCBI36
NG_008916.1:g.35566G>A , LRG_288:g.35566G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3952G>A
ENST00000262186.10:c.3119G>A MANE Select	ENSP00000262186.5:p.Ser1040Asn
ENST00000330883.9:c.2099G>A	ENSP00000328531.4:p.Ser700Asn
ENST00000262186.9:c.3119G>A	ENSP00000262186.5:p.Ser1040Asn
ENST00000330883.8:c.2099G>A	ENSP00000328531.4:p.Ser700Asn
NM_000238.3:c.3119G>A , LRG_288t1:c.3119G>A	NP_000229.1:p.Ser1040Asn
NM_172057.2:c.2099G>A , LRG_288t3:c.2099G>A	NP_742054.1:p.Ser700Asn
XM_011516185.1:c.2819G>A	XP_011514487.1:p.Ser940Asn
XM_011516185.2:c.2819G>A	XP_011514487.1:p.Ser940Asn
XM_017012195.1:c.2969G>A	XP_016867684.1:p.Ser990Asn
XM_017012196.1:c.2942G>A	XP_016867685.1:p.Ser981Asn
NM_000238.4:c.3119G>A MANE Select	NP_000229.1:p.Ser1040Asn
NM_172057.3:c.2099G>A	NP_742054.1:p.Ser700Asn