Canonical Allele Identifier: CA009040

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67550
• ClinVar RCV Id: RCV000058279 ; RCV001854212 ; RCV002477192 ; RCV003993786 ; RCV004019024
• dbSNP Id: rs199472886
• ExAC: 7:150654548 G / A
• gnomAD v2: 7-150654548-G-A
• gnomAD v4: 7-150957460-G-A
• MyVariant Identifiers: chr7:g.150654548G>A (hg19) ; chr7:g.150957460G>A (hg38)
• PubMed: PMID:15840476 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957460G>A , CM000669.2:g.150957460G>A	GRCh38
NC_000007.13:g.150654548G>A , CM000669.1:g.150654548G>A	GRCh37
NC_000007.12:g.150285481G>A	NCBI36
NG_008916.1:g.25467C>T , LRG_288:g.25467C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1792C>T
ENST00000262186.10:c.959C>T MANE Select	ENSP00000262186.5:p.Ser320Leu
ENST00000262186.9:c.959C>T	ENSP00000262186.5:p.Ser320Leu
ENST00000430723.4:c.611C>T	ENSP00000387657.4:p.Ser204Leu
ENST00000532957.5:n.1182C>T
NM_000238.3:c.959C>T , LRG_288t1:c.959C>T	NP_000229.1:p.Ser320Leu
NM_172056.2:c.959C>T , LRG_288t2:c.959C>T	NP_742053.1:p.Ser320Leu
XM_011516185.1:c.659C>T	XP_011514487.1:p.Ser220Leu
XM_011516186.1:c.959C>T	XP_011514488.1:p.Ser320Leu
XM_011516185.2:c.659C>T	XP_011514487.1:p.Ser220Leu
XM_011516186.3:c.959C>T	XP_011514488.1:p.Ser320Leu
XM_017012195.1:c.809C>T	XP_016867684.1:p.Ser270Leu
XM_017012196.1:c.782C>T	XP_016867685.1:p.Ser261Leu
NM_000238.4:c.959C>T MANE Select	NP_000229.1:p.Ser320Leu