Canonical Allele Identifier: CA383466755
Gene: KCNA5 HGNC NCBI

Linked Data

dbSNP Id: rs1383525512
gnomAD v2: 12-5154877-T-C
gnomAD v4: 12-5045711-T-C
MyVariant Identifiers: chr12:g.5154877T>C (hg19) chr12:g.5045711T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5045711T>C , CM000674.2:g.5045711T>C GRCh38
NC_000012.11:g.5154877T>C , CM000674.1:g.5154877T>C GRCh37
NC_000012.10:g.5025138T>C NCBI36
NG_012198.1:g.6793T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.1564T>C MANE Select ENSP00000252321.3:p.Phe522Leu
ENST00000252321.4:c.1564T>C ENSP00000252321.3:p.Phe522Leu
NM_002234.3:c.1564T>C NP_002225.2:p.Phe522Leu
NM_002234.4:c.1564T>C MANE Select NP_002225.2:p.Phe522Leu
Search 100 bp 5'
Search 100 bp 3'