Canonical Allele Identifier: CA369862224

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1764220
• ClinVar RCV Id: RCV002449656 ; RCV003647912
• dbSNP Id: rs199472880
• gnomAD v4: 7-150958110-C-G
• MyVariant Identifiers: chr7:g.150655198C>G (hg19) ; chr7:g.150958110C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958110C>G , CM000669.2:g.150958110C>G	GRCh38
NC_000007.13:g.150655198C>G , CM000669.1:g.150655198C>G	GRCh37
NC_000007.12:g.150286131C>G	NCBI36
NG_008916.1:g.24817G>C , LRG_288:g.24817G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1698G>C
ENST00000262186.10:c.865G>C MANE Select	ENSP00000262186.5:p.Glu289Gln
ENST00000262186.9:c.865G>C	ENSP00000262186.5:p.Glu289Gln
ENST00000430723.4:c.517G>C	ENSP00000387657.4:p.Glu173Gln
ENST00000532957.5:n.1088G>C
NM_000238.3:c.865G>C , LRG_288t1:c.865G>C	NP_000229.1:p.Glu289Gln
NM_172056.2:c.865G>C , LRG_288t2:c.865G>C	NP_742053.1:p.Glu289Gln
XM_011516185.1:c.565G>C	XP_011514487.1:p.Glu189Gln
XM_011516186.1:c.865G>C	XP_011514488.1:p.Glu289Gln
XM_011516185.2:c.565G>C	XP_011514487.1:p.Glu189Gln
XM_011516186.3:c.865G>C	XP_011514488.1:p.Glu289Gln
XM_017012195.1:c.715G>C	XP_016867684.1:p.Glu239Gln
XM_017012196.1:c.688G>C	XP_016867685.1:p.Glu230Gln
NM_000238.4:c.865G>C MANE Select	NP_000229.1:p.Glu289Gln