Canonical Allele Identifier: CA458871857

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150958126-C-A
• MyVariant Identifiers: chr7:g.150655214C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958126C>A , CM000669.2:g.150958126C>A	GRCh38
NC_000007.13:g.150655214C>A , CM000669.1:g.150655214C>A	GRCh37
NC_000007.12:g.150286147C>A	NCBI36
NG_008916.1:g.24801G>T , LRG_288:g.24801G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1682G>T
ENST00000262186.10:c.849G>T MANE Select	ENSP00000262186.5:p.Ser283=
ENST00000262186.9:c.849G>T	ENSP00000262186.5:p.Ser283=
ENST00000430723.4:c.501G>T	ENSP00000387657.4:p.Ser167=
ENST00000532957.5:n.1072G>T
NM_000238.3:c.849G>T , LRG_288t1:c.849G>T	NP_000229.1:p.Ser283=
NM_172056.2:c.849G>T , LRG_288t2:c.849G>T	NP_742053.1:p.Ser283=
XM_011516185.1:c.549G>T	XP_011514487.1:p.Ser183=
XM_011516186.1:c.849G>T	XP_011514488.1:p.Ser283=
XM_011516185.2:c.549G>T	XP_011514487.1:p.Ser183=
XM_011516186.3:c.849G>T	XP_011514488.1:p.Ser283=
XM_017012195.1:c.699G>T	XP_016867684.1:p.Ser233=
XM_017012196.1:c.672G>T	XP_016867685.1:p.Ser224=
NM_000238.4:c.849G>T MANE Select	NP_000229.1:p.Ser283=