Canonical Allele Identifier: CA007271

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67431
• ClinVar RCV Id: RCV000058157 ; RCV003996521
• dbSNP Id: rs199473437
• gnomAD v3: 7-150947827-G-A
• gnomAD v4: 7-150947827-G-A
• MyVariant Identifiers: chr7:g.150644915G>A (hg19) ; chr7:g.150947827G>A (hg38)
• PubMed: PMID:14661677 ; PMID:19841300 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947827G>A , CM000669.2:g.150947827G>A	GRCh38
NC_000007.13:g.150644915G>A , CM000669.1:g.150644915G>A	GRCh37
NC_000007.12:g.150275848G>A	NCBI36
NG_008916.1:g.35100C>T , LRG_288:g.35100C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3577C>T
ENST00000262186.10:c.2744C>T MANE Select	ENSP00000262186.5:p.Ala915Val
ENST00000330883.9:c.1724C>T	ENSP00000328531.4:p.Ala575Val
ENST00000262186.9:c.2744C>T	ENSP00000262186.5:p.Ala915Val
ENST00000330883.8:c.1724C>T	ENSP00000328531.4:p.Ala575Val
NM_000238.3:c.2744C>T , LRG_288t1:c.2744C>T	NP_000229.1:p.Ala915Val
NM_172057.2:c.1724C>T , LRG_288t3:c.1724C>T	NP_742054.1:p.Ala575Val
XM_011516185.1:c.2444C>T	XP_011514487.1:p.Ala815Val
XM_011516186.1:c.2693-136C>T	XP_011514488.1:n.2693-136C>T
XM_011516185.2:c.2444C>T	XP_011514487.1:p.Ala815Val
XM_011516186.3:c.2693-136C>T	XP_011514488.1:n.2693-136C>T
XM_017012195.1:c.2594C>T	XP_016867684.1:p.Ala865Val
XM_017012196.1:c.2567C>T	XP_016867685.1:p.Ala856Val
NM_000238.4:c.2744C>T MANE Select	NP_000229.1:p.Ala915Val
NM_172057.3:c.1724C>T	NP_742054.1:p.Ala575Val