Canonical Allele Identifier: CA383465790
Gene: KCNA5 HGNC NCBI

Linked Data

gnomAD v4: 12-5045252-T-A
MyVariant Identifiers: chr12:g.5154418T>A (hg19) chr12:g.5045252T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5045252T>A , CM000674.2:g.5045252T>A GRCh38
NC_000012.11:g.5154418T>A , CM000674.1:g.5154418T>A GRCh37
NC_000012.10:g.5024679T>A NCBI36
NG_012198.1:g.6334T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.1105T>A MANE Select ENSP00000252321.3:p.Phe369Ile
ENST00000252321.4:c.1105T>A ENSP00000252321.3:p.Phe369Ile
NM_002234.3:c.1105T>A NP_002225.2:p.Phe369Ile
NM_002234.4:c.1105T>A MANE Select NP_002225.2:p.Phe369Ile
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