Canonical Allele Identifier: CA231867812
Gene: KCNA5 HGNC NCBI

Linked Data

ClinVar Variation Id: 574748
ClinVar RCV Id: RCV000696762
dbSNP Id: rs528511896
gnomAD v2: 12-5154088-G-T
gnomAD v3: 12-5044922-G-T
gnomAD v4: 12-5044922-G-T
MyVariant Identifiers: chr12:g.5154088G>T (hg19) chr12:g.5044922G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5044922G>T , CM000674.2:g.5044922G>T GRCh38
NC_000012.11:g.5154088G>T , CM000674.1:g.5154088G>T GRCh37
NC_000012.10:g.5024349G>T NCBI36
NG_012198.1:g.6004G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.775G>T MANE Select ENSP00000252321.3:p.Val259Phe
ENST00000252321.4:c.775G>T ENSP00000252321.3:p.Val259Phe
NM_002234.3:c.775G>T NP_002225.2:p.Val259Phe
NM_002234.4:c.775G>T MANE Select NP_002225.2:p.Val259Phe
Search 100 bp 5'
Search 100 bp 3'