Canonical Allele Identifier: CA007968

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67470
• ClinVar RCV Id: RCV000058198 ; RCV001206913 ; RCV003298112 ; RCV001841743
• dbSNP Id: rs199473023
• gnomAD v2: 7-150644459-C-T
• gnomAD v3: 7-150947371-C-T
• gnomAD v4: 7-150947371-C-T
• MyVariant Identifiers: chr7:g.150644459C>T (hg19) ; chr7:g.150947371C>T (hg38)
• PubMed: PMID:19841300 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947371C>T , CM000669.2:g.150947371C>T	GRCh38
NC_000007.13:g.150644459C>T , CM000669.1:g.150644459C>T	GRCh37
NC_000007.12:g.150275392C>T	NCBI36
NG_008916.1:g.35556G>A , LRG_288:g.35556G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3942G>A
ENST00000262186.10:c.3109G>A MANE Select	ENSP00000262186.5:p.Asp1037Asn
ENST00000330883.9:c.2089G>A	ENSP00000328531.4:p.Asp697Asn
ENST00000262186.9:c.3109G>A	ENSP00000262186.5:p.Asp1037Asn
ENST00000330883.8:c.2089G>A	ENSP00000328531.4:p.Asp697Asn
NM_000238.3:c.3109G>A , LRG_288t1:c.3109G>A	NP_000229.1:p.Asp1037Asn
NM_172057.2:c.2089G>A , LRG_288t3:c.2089G>A	NP_742054.1:p.Asp697Asn
XM_011516185.1:c.2809G>A	XP_011514487.1:p.Asp937Asn
XM_011516185.2:c.2809G>A	XP_011514487.1:p.Asp937Asn
XM_017012195.1:c.2959G>A	XP_016867684.1:p.Asp987Asn
XM_017012196.1:c.2932G>A	XP_016867685.1:p.Asp978Asn
NM_000238.4:c.3109G>A MANE Select	NP_000229.1:p.Asp1037Asn
NM_172057.3:c.2089G>A	NP_742054.1:p.Asp697Asn