Canonical Allele Identifier: CA004184

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67163
• ClinVar RCV Id: RCV000057870 ; RCV000148527 ; RCV000181777 ; RCV000619112 ; RCV000678963 ; RCV001841694 ; RCV004549481
• dbSNP Id: rs138776684
• ExAC: 7:150654468 G / A
• gnomAD v2: 7-150654468-G-A
• gnomAD v3: 7-150957380-G-A
• gnomAD v4: 7-150957380-G-A
• MyVariant Identifiers: chr7:g.150654468G>A (hg19) ; chr7:g.150957380G>A (hg38)
• PubMed: PMID:9972380 ; PMID:10973849 ; PMID:12402336 ; PMID:14661677 ; PMID:14760488 ; PMID:15176422 ; PMID:16432067 ; PMID:18955676 ; PMID:19841300 ; PMID:20459385 ; PMID:20486126 ; PMID:21410720 ; PMID:22378279 ; PMID:22581653 ; PMID:22949429 ; PMID:23303164 ; PMID:23369369 ; PMID:23834499 ; PMID:23861362 ; PMID:24055113 ; PMID:24428853 ; PMID:25351510 ; PMID:25637381 ; PMID:26159999 ; PMID:26189708 ; PMID:26498160

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957380G>A , CM000669.2:g.150957380G>A	GRCh38
NC_000007.13:g.150654468G>A , CM000669.1:g.150654468G>A	GRCh37
NC_000007.12:g.150285401G>A	NCBI36
NG_008916.1:g.25547C>T , LRG_288:g.25547C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1872C>T
ENST00000262186.10:c.1039C>T MANE Select	ENSP00000262186.5:p.Pro347Ser
ENST00000262186.9:c.1039C>T	ENSP00000262186.5:p.Pro347Ser
ENST00000430723.4:c.691C>T	ENSP00000387657.4:p.Pro231Ser
ENST00000532957.5:n.1262C>T
NM_000238.3:c.1039C>T , LRG_288t1:c.1039C>T	NP_000229.1:p.Pro347Ser
NM_172056.2:c.1039C>T , LRG_288t2:c.1039C>T	NP_742053.1:p.Pro347Ser
XM_011516185.1:c.739C>T	XP_011514487.1:p.Pro247Ser
XM_011516186.1:c.1039C>T	XP_011514488.1:p.Pro347Ser
XM_011516185.2:c.739C>T	XP_011514487.1:p.Pro247Ser
XM_011516186.3:c.1039C>T	XP_011514488.1:p.Pro347Ser
XM_017012195.1:c.889C>T	XP_016867684.1:p.Pro297Ser
XM_017012196.1:c.862C>T	XP_016867685.1:p.Pro288Ser
NM_000238.4:c.1039C>T MANE Select	NP_000229.1:p.Pro347Ser