Canonical Allele Identifier: CA458644977

Gene: KCNH2

Linked Data

• dbSNP Id: rs1181660805
• gnomAD v2: 7-150645548-G-A
• MyVariant Identifiers: chr7:g.150645548G>A (hg19) ; chr7:g.150948460G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948460G>A , CM000669.2:g.150948460G>A	GRCh38
NC_000007.13:g.150645548G>A , CM000669.1:g.150645548G>A	GRCh37
NC_000007.12:g.150276481G>A	NCBI36
NG_008916.1:g.34467C>T , LRG_288:g.34467C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3509C>T
ENST00000262186.10:c.2676C>T MANE Select	ENSP00000262186.5:p.Arg892=
ENST00000330883.9:c.1656C>T	ENSP00000328531.4:p.Arg552=
ENST00000262186.9:c.2676C>T	ENSP00000262186.5:p.Arg892=
ENST00000330883.8:c.1656C>T	ENSP00000328531.4:p.Arg552=
NM_000238.3:c.2676C>T , LRG_288t1:c.2676C>T	NP_000229.1:p.Arg892=
NM_172057.2:c.1656C>T , LRG_288t3:c.1656C>T	NP_742054.1:p.Arg552=
XM_011516185.1:c.2376C>T	XP_011514487.1:p.Arg792=
XM_011516186.1:c.2676C>T	XP_011514488.1:p.Arg892=
XM_011516185.2:c.2376C>T	XP_011514487.1:p.Arg792=
XM_011516186.3:c.2676C>T	XP_011514488.1:p.Arg892=
XM_017012195.1:c.2526C>T	XP_016867684.1:p.Arg842=
XM_017012196.1:c.2499C>T	XP_016867685.1:p.Arg833=
NM_000238.4:c.2676C>T MANE Select	NP_000229.1:p.Arg892=
NM_172057.3:c.1656C>T	NP_742054.1:p.Arg552=