Canonical Allele Identifier: CA458871731

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150974742-G-T
• MyVariant Identifiers: chr7:g.150671830G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974742G>T , CM000669.2:g.150974742G>T	GRCh38
NC_000007.13:g.150671830G>T , CM000669.1:g.150671830G>T	GRCh37
NC_000007.12:g.150302763G>T	NCBI36
NG_008916.1:g.8185C>A , LRG_288:g.8185C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262186.10:c.276C>A MANE Select	ENSP00000262186.5:p.Arg92=
ENST00000262186.9:c.276C>A	ENSP00000262186.5:p.Arg92=
ENST00000430723.4:c.99C>A	ENSP00000387657.4:p.Arg33=
ENST00000532957.5:n.499C>A
NM_000238.3:c.276C>A , LRG_288t1:c.276C>A	NP_000229.1:p.Arg92=
NM_172056.2:c.276C>A , LRG_288t2:c.276C>A	NP_742053.1:p.Arg92=
XM_011516186.1:c.276C>A	XP_011514488.1:p.Arg92=
XM_011516186.3:c.276C>A	XP_011514488.1:p.Arg92=
XM_017012196.1:c.99C>A	XP_016867685.1:p.Arg33=
NM_000238.4:c.276C>A MANE Select	NP_000229.1:p.Arg92=