Canonical Allele Identifier: CA008577

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67511
• ClinVar RCV Id: RCV000058240
• dbSNP Id: rs199472867
• gnomAD v4: 7-150958416-C-T
• MyVariant Identifiers: chr7:g.150655504C>T (hg19) ; chr7:g.150958416C>T (hg38)
• PubMed: PMID:14661677 ; PMID:19841300 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958416C>T , CM000669.2:g.150958416C>T	GRCh38
NC_000007.13:g.150655504C>T , CM000669.1:g.150655504C>T	GRCh37
NC_000007.12:g.150286437C>T	NCBI36
NG_008916.1:g.24511G>A , LRG_288:g.24511G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1392G>A
ENST00000262186.10:c.559G>A MANE Select	ENSP00000262186.5:p.Gly187Ser
ENST00000262186.9:c.559G>A	ENSP00000262186.5:p.Gly187Ser
ENST00000430723.4:c.235-24G>A	ENSP00000387657.4:n.235-24G>A
ENST00000532957.5:n.782G>A
NM_000238.3:c.559G>A , LRG_288t1:c.559G>A	NP_000229.1:p.Gly187Ser
NM_172056.2:c.559G>A , LRG_288t2:c.559G>A	NP_742053.1:p.Gly187Ser
XM_011516185.1:c.259G>A	XP_011514487.1:p.Gly87Ser
XM_011516186.1:c.559G>A	XP_011514488.1:p.Gly187Ser
XM_011516185.2:c.259G>A	XP_011514487.1:p.Gly87Ser
XM_011516186.3:c.559G>A	XP_011514488.1:p.Gly187Ser
XM_017012195.1:c.409G>A	XP_016867684.1:p.Gly137Ser
XM_017012196.1:c.382G>A	XP_016867685.1:p.Gly128Ser
NM_000238.4:c.559G>A MANE Select	NP_000229.1:p.Gly187Ser