Canonical Allele Identifier: CA005012

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 200557
• ClinVar RCV Id: RCV000181931 ; RCV000461590
• dbSNP Id: rs199472845
• gnomAD v4: 7-150974851-C-A
• MyVariant Identifiers: chr7:g.150671939C>A (hg19) ; chr7:g.150974851C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974851C>A , CM000669.2:g.150974851C>A	GRCh38
NC_000007.13:g.150671939C>A , CM000669.1:g.150671939C>A	GRCh37
NC_000007.12:g.150302872C>A	NCBI36
NG_008916.1:g.8076G>T , LRG_288:g.8076G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.167G>T MANE Select	ENSP00000262186.5:p.Arg56Leu
ENST00000262186.9:c.167G>T	ENSP00000262186.5:p.Arg56Leu
ENST00000430723.4:c.-11G>T	ENSP00000387657.4:n.-11G>T
ENST00000532957.5:n.390G>T
NM_000238.3:c.167G>T , LRG_288t1:c.167G>T	NP_000229.1:p.Arg56Leu
NM_172056.2:c.167G>T , LRG_288t2:c.167G>T	NP_742053.1:p.Arg56Leu
XM_011516186.1:c.167G>T	XP_011514488.1:p.Arg56Leu
XM_011516186.3:c.167G>T	XP_011514488.1:p.Arg56Leu
XM_017012196.1:c.-11G>T	XP_016867685.1:n.-11G>T
NM_000238.4:c.167G>T MANE Select	NP_000229.1:p.Arg56Leu