Canonical Allele Identifier: CA10587642

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 264521
• ClinVar RCV Id: RCV000243747 ; RCV002518733
• dbSNP Id: rs886039183
• gnomAD v2: 7-150671894-C-T
• MyVariant Identifiers: chr7:g.150671894C>T (hg19) ; chr7:g.150974806C>T (hg38)
• PubMed: PMID:16414944 ; PMID:23631430 ; PMID:25417810

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974806C>T , CM000669.2:g.150974806C>T	GRCh38
NC_000007.13:g.150671894C>T , CM000669.1:g.150671894C>T	GRCh37
NC_000007.12:g.150302827C>T	NCBI36
NG_008916.1:g.8121G>A , LRG_288:g.8121G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.212G>A MANE Select	ENSP00000262186.5:p.Gly71Glu
ENST00000262186.9:c.212G>A	ENSP00000262186.5:p.Gly71Glu
ENST00000430723.4:c.35G>A	ENSP00000387657.4:p.Gly12Glu
ENST00000532957.5:n.435G>A
NM_000238.3:c.212G>A , LRG_288t1:c.212G>A	NP_000229.1:p.Gly71Glu
NM_172056.2:c.212G>A , LRG_288t2:c.212G>A	NP_742053.1:p.Gly71Glu
XM_011516186.1:c.212G>A	XP_011514488.1:p.Gly71Glu
XM_011516186.3:c.212G>A	XP_011514488.1:p.Gly71Glu
XM_017012196.1:c.35G>A	XP_016867685.1:p.Gly12Glu
NM_000238.4:c.212G>A MANE Select	NP_000229.1:p.Gly71Glu