Canonical Allele Identifier: CA004951

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67224
• ClinVar RCV Id: RCV000057933 ; RCV000182049 ; RCV001320245 ; RCV002399421
• dbSNP Id: rs199472844
• gnomAD v4: 7-150974854-G-A
• MyVariant Identifiers: chr7:g.150671942G>A (hg19) ; chr7:g.150974854G>A (hg38)
• PubMed: PMID:15840476 ; PMID:18508782 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974854G>A , CM000669.2:g.150974854G>A	GRCh38
NC_000007.13:g.150671942G>A , CM000669.1:g.150671942G>A	GRCh37
NC_000007.12:g.150302875G>A	NCBI36
NG_008916.1:g.8073C>T , LRG_288:g.8073C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.164C>T MANE Select	ENSP00000262186.5:p.Ser55Leu
ENST00000262186.9:c.164C>T	ENSP00000262186.5:p.Ser55Leu
ENST00000430723.4:c.-14C>T	ENSP00000387657.4:n.-14C>T
ENST00000532957.5:n.387C>T
NM_000238.3:c.164C>T , LRG_288t1:c.164C>T	NP_000229.1:p.Ser55Leu
NM_172056.2:c.164C>T , LRG_288t2:c.164C>T	NP_742053.1:p.Ser55Leu
XM_011516186.1:c.164C>T	XP_011514488.1:p.Ser55Leu
XM_011516186.3:c.164C>T	XP_011514488.1:p.Ser55Leu
XM_017012196.1:c.-14C>T	XP_016867685.1:n.-14C>T
NM_000238.4:c.164C>T MANE Select	NP_000229.1:p.Ser55Leu