Canonical Allele Identifier: CA369853494

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 2098288
• ClinVar RCV Id: RCV003008425
• MyVariant Identifiers: chr7:g.150644925G>C (hg19) ; chr7:g.150947837G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947837G>C , CM000669.2:g.150947837G>C	GRCh38
NC_000007.13:g.150644925G>C , CM000669.1:g.150644925G>C	GRCh37
NC_000007.12:g.150275858G>C	NCBI36
NG_008916.1:g.35090C>G , LRG_288:g.35090C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3567C>G
ENST00000262186.10:c.2734C>G MANE Select	ENSP00000262186.5:p.Arg912Gly
ENST00000330883.9:c.1714C>G	ENSP00000328531.4:p.Arg572Gly
ENST00000262186.9:c.2734C>G	ENSP00000262186.5:p.Arg912Gly
ENST00000330883.8:c.1714C>G	ENSP00000328531.4:p.Arg572Gly
NM_000238.3:c.2734C>G , LRG_288t1:c.2734C>G	NP_000229.1:p.Arg912Gly
NM_172057.2:c.1714C>G , LRG_288t3:c.1714C>G	NP_742054.1:p.Arg572Gly
XM_011516185.1:c.2434C>G	XP_011514487.1:p.Arg812Gly
XM_011516186.1:c.2693-146C>G	XP_011514488.1:n.2693-146C>G
XM_011516185.2:c.2434C>G	XP_011514487.1:p.Arg812Gly
XM_011516186.3:c.2693-146C>G	XP_011514488.1:n.2693-146C>G
XM_017012195.1:c.2584C>G	XP_016867684.1:p.Arg862Gly
XM_017012196.1:c.2557C>G	XP_016867685.1:p.Arg853Gly
NM_000238.4:c.2734C>G MANE Select	NP_000229.1:p.Arg912Gly
NM_172057.3:c.1714C>G	NP_742054.1:p.Arg572Gly