Canonical Allele Identifier: CA458871917

Gene: KCNH2

Linked Data

• dbSNP Id: rs1457478171
• gnomAD v3: 7-150958159-G-A
• gnomAD v4: 7-150958159-G-A
• MyVariant Identifiers: chr7:g.150655247G>A (hg19) ; chr7:g.150958159G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958159G>A , CM000669.2:g.150958159G>A	GRCh38
NC_000007.13:g.150655247G>A , CM000669.1:g.150655247G>A	GRCh37
NC_000007.12:g.150286180G>A	NCBI36
NG_008916.1:g.24768C>T , LRG_288:g.24768C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1649C>T
ENST00000262186.10:c.816C>T MANE Select	ENSP00000262186.5:p.Ser272=
ENST00000262186.9:c.816C>T	ENSP00000262186.5:p.Ser272=
ENST00000430723.4:c.468C>T	ENSP00000387657.4:p.Ser156=
ENST00000532957.5:n.1039C>T
NM_000238.3:c.816C>T , LRG_288t1:c.816C>T	NP_000229.1:p.Ser272=
NM_172056.2:c.816C>T , LRG_288t2:c.816C>T	NP_742053.1:p.Ser272=
XM_011516185.1:c.516C>T	XP_011514487.1:p.Ser172=
XM_011516186.1:c.816C>T	XP_011514488.1:p.Ser272=
XM_011516185.2:c.516C>T	XP_011514487.1:p.Ser172=
XM_011516186.3:c.816C>T	XP_011514488.1:p.Ser272=
XM_017012195.1:c.666C>T	XP_016867684.1:p.Ser222=
XM_017012196.1:c.639C>T	XP_016867685.1:p.Ser213=
NM_000238.4:c.816C>T MANE Select	NP_000229.1:p.Ser272=