Canonical Allele Identifier: CA032982
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1634094
ClinVar RCV Id: RCV002124341 RCV002427692
dbSNP Id: rs770232755
ExAC: 7:150671854 C / T
gnomAD v2: 7-150671854-C-T
gnomAD v4: 7-150974766-C-T
MyVariant Identifiers: chr7:g.150671854C>T (hg19) chr7:g.150974766C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150974766C>T , CM000669.2:g.150974766C>T GRCh38
NC_000007.13:g.150671854C>T , CM000669.1:g.150671854C>T GRCh37
NC_000007.12:g.150302787C>T NCBI36
NG_008916.1:g.8161G>A , LRG_288:g.8161G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000262186.10:c.252G>A MANE Select ENSP00000262186.5:p.Gln84=
ENST00000262186.9:c.252G>A ENSP00000262186.5:p.Gln84=
ENST00000430723.4:c.75G>A ENSP00000387657.4:p.Gln25=
ENST00000532957.5:n.475G>A
NM_000238.3:c.252G>A , LRG_288t1:c.252G>A NP_000229.1:p.Gln84=
NM_172056.2:c.252G>A , LRG_288t2:c.252G>A NP_742053.1:p.Gln84=
XM_011516186.1:c.252G>A XP_011514488.1:p.Gln84=
XM_011516186.3:c.252G>A XP_011514488.1:p.Gln84=
XM_017012196.1:c.75G>A XP_016867685.1:p.Gln25=
NM_000238.4:c.252G>A MANE Select NP_000229.1:p.Gln84=
Search 100 bp 5'
Search 100 bp 3'