Canonical Allele Identifier: CA369861411

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 909783
• ClinVar RCV Id: RCV001161093
• dbSNP Id: rs1801405757
• MyVariant Identifiers: chr7:g.150654381G>C (hg19) ; chr7:g.150957293G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957293G>C , CM000669.2:g.150957293G>C	GRCh38
NC_000007.13:g.150654381G>C , CM000669.1:g.150654381G>C	GRCh37
NC_000007.12:g.150285314G>C	NCBI36
NG_008916.1:g.25634C>G , LRG_288:g.25634C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1959C>G
ENST00000262186.10:c.1126C>G MANE Select	ENSP00000262186.5:p.Gln376Glu
ENST00000262186.9:c.1126C>G	ENSP00000262186.5:p.Gln376Glu
ENST00000430723.4:c.778C>G	ENSP00000387657.4:p.Gln260Glu
ENST00000532957.5:n.1349C>G
NM_000238.3:c.1126C>G , LRG_288t1:c.1126C>G	NP_000229.1:p.Gln376Glu
NM_172056.2:c.1126C>G , LRG_288t2:c.1126C>G	NP_742053.1:p.Gln376Glu
XM_011516185.1:c.826C>G	XP_011514487.1:p.Gln276Glu
XM_011516186.1:c.1126C>G	XP_011514488.1:p.Gln376Glu
XM_011516185.2:c.826C>G	XP_011514487.1:p.Gln276Glu
XM_011516186.3:c.1126C>G	XP_011514488.1:p.Gln376Glu
XM_017012195.1:c.976C>G	XP_016867684.1:p.Gln326Glu
XM_017012196.1:c.949C>G	XP_016867685.1:p.Gln317Glu
NM_000238.4:c.1126C>G MANE Select	NP_000229.1:p.Gln376Glu