Canonical Allele Identifier: CA007783

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 14431
• ClinVar RCV Id: RCV001207958
• dbSNP Id: rs121912509
• gnomAD v2: 7-150644565-C-T
• gnomAD v4: 7-150947477-C-T
• MyVariant Identifiers: chr7:g.150644565C>T (hg19) ; chr7:g.150947477C>T (hg38)
• PubMed: PMID:12021266

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947477C>T , CM000669.2:g.150947477C>T	GRCh38
NC_000007.13:g.150644565C>T , CM000669.1:g.150644565C>T	GRCh37
NC_000007.12:g.150275498C>T	NCBI36
NG_008916.1:g.35450G>A , LRG_288:g.35450G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3836G>A
ENST00000262186.10:c.3003G>A MANE Select	ENSP00000262186.5:p.Trp1001Ter
ENST00000330883.9:c.1983G>A	ENSP00000328531.4:p.Trp661Ter
ENST00000262186.9:c.3003G>A	ENSP00000262186.5:p.Trp1001Ter
ENST00000330883.8:c.1983G>A	ENSP00000328531.4:p.Trp661Ter
NM_000238.3:c.3003G>A , LRG_288t1:c.3003G>A	NP_000229.1:p.Trp1001Ter
NM_172057.2:c.1983G>A , LRG_288t3:c.1983G>A	NP_742054.1:p.Trp661Ter
XM_011516185.1:c.2703G>A	XP_011514487.1:p.Trp901Ter
XM_011516186.1:c.*83G>A	XP_011514488.1:n.*83G>A
XM_011516185.2:c.2703G>A	XP_011514487.1:p.Trp901Ter
XM_011516186.3:c.*83G>A	XP_011514488.1:n.*83G>A
XM_017012195.1:c.2853G>A	XP_016867684.1:p.Trp951Ter
XM_017012196.1:c.2826G>A	XP_016867685.1:p.Trp942Ter
NM_000238.4:c.3003G>A MANE Select	NP_000229.1:p.Trp1001Ter
NM_172057.3:c.1983G>A	NP_742054.1:p.Trp661Ter