Canonical Allele Identifier: CA006796

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 14424
• ClinVar RCV Id: RCV000015505 ; RCV000254122 ; RCV000806677 ; RCV000058125 ; RCV000509399 ; RCV001544763
• dbSNP Id: rs121912506
• MyVariant Identifiers: chr7:g.150646072C>T (hg19) ; chr7:g.150948984C>T (hg38)
• PubMed: PMID:8914737 ; PMID:9694858 ; PMID:10086971 ; PMID:11222472 ; PMID:11854117 ; PMID:15840476 ; PMID:16432067 ; PMID:19716085 ; PMID:22581653 ; PMID:23303164 ; PMID:27807201

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948984C>T , CM000669.2:g.150948984C>T	GRCh38
NC_000007.13:g.150646072C>T , CM000669.1:g.150646072C>T	GRCh37
NC_000007.12:g.150277005C>T	NCBI36
NG_008916.1:g.33943G>A , LRG_288:g.33943G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3297G>A
ENST00000262186.10:c.2464G>A MANE Select	ENSP00000262186.5:p.Val822Met
ENST00000330883.9:c.1444G>A	ENSP00000328531.4:p.Val482Met
ENST00000262186.9:c.2464G>A	ENSP00000262186.5:p.Val822Met
ENST00000330883.8:c.1444G>A	ENSP00000328531.4:p.Val482Met
NM_000238.3:c.2464G>A , LRG_288t1:c.2464G>A	NP_000229.1:p.Val822Met
NM_172057.2:c.1444G>A , LRG_288t3:c.1444G>A	NP_742054.1:p.Val482Met
XM_011516185.1:c.2164G>A	XP_011514487.1:p.Val722Met
XM_011516186.1:c.2464G>A	XP_011514488.1:p.Val822Met
XM_011516185.2:c.2164G>A	XP_011514487.1:p.Val722Met
XM_011516186.3:c.2464G>A	XP_011514488.1:p.Val822Met
XM_017012195.1:c.2314G>A	XP_016867684.1:p.Val772Met
XM_017012196.1:c.2287G>A	XP_016867685.1:p.Val763Met
NM_000238.4:c.2464G>A MANE Select	NP_000229.1:p.Val822Met
NM_172057.3:c.1444G>A	NP_742054.1:p.Val482Met