Canonical Allele Identifier: CA035006

Gene: KCNH2

Linked Data

• dbSNP Id: rs749992488
• ExAC: 7:150671823 C / T
• gnomAD v2: 7-150671823-C-T
• gnomAD v3: 7-150974735-C-T
• gnomAD v4: 7-150974735-C-T
• MyVariant Identifiers: chr7:g.150671823C>T (hg19) ; chr7:g.150974735C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974735C>T , CM000669.2:g.150974735C>T	GRCh38
NC_000007.13:g.150671823C>T , CM000669.1:g.150671823C>T	GRCh37
NC_000007.12:g.150302756C>T	NCBI36
NG_008916.1:g.8192G>A , LRG_288:g.8192G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.283G>A MANE Select	ENSP00000262186.5:p.Glu95Lys
ENST00000262186.9:c.283G>A	ENSP00000262186.5:p.Glu95Lys
ENST00000430723.4:c.106G>A	ENSP00000387657.4:p.Glu36Lys
ENST00000532957.5:n.506G>A
NM_000238.3:c.283G>A , LRG_288t1:c.283G>A	NP_000229.1:p.Glu95Lys
NM_172056.2:c.283G>A , LRG_288t2:c.283G>A	NP_742053.1:p.Glu95Lys
XM_011516186.1:c.283G>A	XP_011514488.1:p.Glu95Lys
XM_011516186.3:c.283G>A	XP_011514488.1:p.Glu95Lys
XM_017012196.1:c.106G>A	XP_016867685.1:p.Glu36Lys
NM_000238.4:c.283G>A MANE Select	NP_000229.1:p.Glu95Lys