Canonical Allele Identifier: CA008794

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67526
• ClinVar RCV Id: RCV002513762
• dbSNP Id: rs199472875
• gnomAD v2: 7-150655294-T-G
• gnomAD v3: 7-150958206-T-G
• gnomAD v4: 7-150958206-T-G
• MyVariant Identifiers: chr7:g.150655294T>G (hg19) ; chr7:g.150958206T>G (hg38)
• PubMed: PMID:14661677 ; PMID:19841300 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958206T>G , CM000669.2:g.150958206T>G	GRCh38
NC_000007.13:g.150655294T>G , CM000669.1:g.150655294T>G	GRCh37
NC_000007.12:g.150286227T>G	NCBI36
NG_008916.1:g.24721A>C , LRG_288:g.24721A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1602A>C
ENST00000262186.10:c.769A>C MANE Select	ENSP00000262186.5:p.Asn257His
ENST00000262186.9:c.769A>C	ENSP00000262186.5:p.Asn257His
ENST00000430723.4:c.421A>C	ENSP00000387657.4:p.Asn141His
ENST00000532957.5:n.992A>C
NM_000238.3:c.769A>C , LRG_288t1:c.769A>C	NP_000229.1:p.Asn257His
NM_172056.2:c.769A>C , LRG_288t2:c.769A>C	NP_742053.1:p.Asn257His
XM_011516185.1:c.469A>C	XP_011514487.1:p.Asn157His
XM_011516186.1:c.769A>C	XP_011514488.1:p.Asn257His
XM_011516185.2:c.469A>C	XP_011514487.1:p.Asn157His
XM_011516186.3:c.769A>C	XP_011514488.1:p.Asn257His
XM_017012195.1:c.619A>C	XP_016867684.1:p.Asn207His
XM_017012196.1:c.592A>C	XP_016867685.1:p.Asn198His
NM_000238.4:c.769A>C MANE Select	NP_000229.1:p.Asn257His