Canonical Allele Identifier: CA458872447

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 514956
• ClinVar RCV Id: RCV001841773 ; RCV001868068
• dbSNP Id: rs199472838
• gnomAD v2: 7-150671974-G-A
• gnomAD v3: 7-150974886-G-A
• gnomAD v4: 7-150974886-G-A
• MyVariant Identifiers: chr7:g.150671974G>A (hg19) ; chr7:g.150974886G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974886G>A , CM000669.2:g.150974886G>A	GRCh38
NC_000007.13:g.150671974G>A , CM000669.1:g.150671974G>A	GRCh37
NC_000007.12:g.150302907G>A	NCBI36
NG_008916.1:g.8041C>T , LRG_288:g.8041C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262186.10:c.132C>T MANE Select	ENSP00000262186.5:p.Cys44=
ENST00000262186.9:c.132C>T	ENSP00000262186.5:p.Cys44=
ENST00000430723.4:c.-46C>T	ENSP00000387657.4:n.-46C>T
ENST00000532957.5:n.355C>T
NM_000238.3:c.132C>T , LRG_288t1:c.132C>T	NP_000229.1:p.Cys44=
NM_172056.2:c.132C>T , LRG_288t2:c.132C>T	NP_742053.1:p.Cys44=
XM_011516186.1:c.132C>T	XP_011514488.1:p.Cys44=
XM_011516186.3:c.132C>T	XP_011514488.1:p.Cys44=
XM_017012196.1:c.-46C>T	XP_016867685.1:n.-46C>T
NM_000238.4:c.132C>T MANE Select	NP_000229.1:p.Cys44=