Canonical Allele Identifier: CA040098
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1665129
ClinVar RCV Id: RCV002193568
dbSNP Id: rs748478702
ExAC: 7:150674942 G / T
gnomAD v2: 7-150674942-G-T
gnomAD v4: 7-150977854-G-T
MyVariant Identifiers: chr7:g.150674942G>T (hg19) chr7:g.150977854G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150977854G>T , CM000669.2:g.150977854G>T GRCh38
NC_000007.13:g.150674942G>T , CM000669.1:g.150674942G>T GRCh37
NC_000007.12:g.150305875G>T NCBI36
NG_008916.1:g.5073C>A , LRG_288:g.5073C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262186.10:c.60C>A MANE Select ENSP00000262186.5:p.Arg20=
ENST00000262186.9:c.60C>A ENSP00000262186.5:p.Arg20=
ENST00000430723.4:c.-118C>A ENSP00000387657.4:n.-118C>A
ENST00000532957.5:n.283C>A
NM_000238.3:c.60C>A , LRG_288t1:c.60C>A NP_000229.1:p.Arg20=
NM_172056.2:c.60C>A , LRG_288t2:c.60C>A NP_742053.1:p.Arg20=
XM_011516186.1:c.60C>A XP_011514488.1:p.Arg20=
XM_011516186.3:c.60C>A XP_011514488.1:p.Arg20=
NM_000238.4:c.60C>A MANE Select NP_000229.1:p.Arg20=
Search 100 bp 5'
Search 100 bp 3'