Canonical Allele Identifier: CA383466705
Gene: KCNA5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2166996
ClinVar RCV Id: RCV003098924
dbSNP Id: rs1366767842
gnomAD v2: 12-5154856-A-G
gnomAD v3: 12-5045690-A-G
gnomAD v4: 12-5045690-A-G
MyVariant Identifiers: chr12:g.5154856A>G (hg19) chr12:g.5045690A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5045690A>G , CM000674.2:g.5045690A>G GRCh38
NC_000012.11:g.5154856A>G , CM000674.1:g.5154856A>G GRCh37
NC_000012.10:g.5025117A>G NCBI36
NG_012198.1:g.6772A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.1543A>G MANE Select ENSP00000252321.3:p.Ile515Val
ENST00000252321.4:c.1543A>G ENSP00000252321.3:p.Ile515Val
NM_002234.3:c.1543A>G NP_002225.2:p.Ile515Val
NM_002234.4:c.1543A>G MANE Select NP_002225.2:p.Ile515Val
Search 100 bp 5'
Search 100 bp 3'