Canonical Allele Identifier: CA169090296
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 456911
ClinVar RCV Id: RCV000549893 RCV002431537
dbSNP Id: rs963871771
gnomAD v2: 7-150671857-C-T
gnomAD v3: 7-150974769-C-T
gnomAD v4: 7-150974769-C-T
MyVariant Identifiers: chr7:g.150671857C>T (hg19) chr7:g.150974769C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150974769C>T , CM000669.2:g.150974769C>T GRCh38
NC_000007.13:g.150671857C>T , CM000669.1:g.150671857C>T GRCh37
NC_000007.12:g.150302790C>T NCBI36
NG_008916.1:g.8158G>A , LRG_288:g.8158G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262186.10:c.249G>A MANE Select ENSP00000262186.5:p.Ala83=
ENST00000262186.9:c.249G>A ENSP00000262186.5:p.Ala83=
ENST00000430723.4:c.72G>A ENSP00000387657.4:p.Ala24=
ENST00000532957.5:n.472G>A
NM_000238.3:c.249G>A , LRG_288t1:c.249G>A NP_000229.1:p.Ala83=
NM_172056.2:c.249G>A , LRG_288t2:c.249G>A NP_742053.1:p.Ala83=
XM_011516186.1:c.249G>A XP_011514488.1:p.Ala83=
XM_011516186.3:c.249G>A XP_011514488.1:p.Ala83=
XM_017012196.1:c.72G>A XP_016867685.1:p.Ala24=
NM_000238.4:c.249G>A MANE Select NP_000229.1:p.Ala83=
Search 100 bp 5'
Search 100 bp 3'