Canonical Allele Identifier: CA007747

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67459
• ClinVar RCV Id: RCV000058187 ; RCV001230350 ; RCV002433560
• dbSNP Id: rs121912515
• gnomAD v4: 7-150974720-G-A
• MyVariant Identifiers: chr7:g.150671808G>A (hg19) ; chr7:g.150974720G>A (hg38)
• PubMed: PMID:19716085 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974720G>A , CM000669.2:g.150974720G>A	GRCh38
NC_000007.13:g.150671808G>A , CM000669.1:g.150671808G>A	GRCh37
NC_000007.12:g.150302741G>A	NCBI36
NG_008916.1:g.8207C>T , LRG_288:g.8207C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.298C>T MANE Select	ENSP00000262186.5:p.Arg100Trp
ENST00000262186.9:c.298C>T	ENSP00000262186.5:p.Arg100Trp
ENST00000430723.4:c.121C>T	ENSP00000387657.4:p.Arg41Trp
ENST00000532957.5:n.521C>T
NM_000238.3:c.298C>T , LRG_288t1:c.298C>T	NP_000229.1:p.Arg100Trp
NM_172056.2:c.298C>T , LRG_288t2:c.298C>T	NP_742053.1:p.Arg100Trp
XM_011516186.1:c.298C>T	XP_011514488.1:p.Arg100Trp
XM_011516186.3:c.298C>T	XP_011514488.1:p.Arg100Trp
XM_017012196.1:c.121C>T	XP_016867685.1:p.Arg41Trp
NM_000238.4:c.298C>T MANE Select	NP_000229.1:p.Arg100Trp