Canonical Allele Identifier: CA383466083
Gene: KCNA5 HGNC NCBI

Linked Data

gnomAD v4: 12-5045397-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5045397C>T , CM000674.2:g.5045397C>T GRCh38
NC_000012.11:g.5154563C>T , CM000674.1:g.5154563C>T GRCh37
NC_000012.10:g.5024824C>T NCBI36
NG_012198.1:g.6479C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.1250C>T MANE Select ENSP00000252321.3:p.Ser417Phe
ENST00000252321.4:c.1250C>T ENSP00000252321.3:p.Ser417Phe
NM_002234.3:c.1250C>T NP_002225.2:p.Ser417Phe
NM_002234.4:c.1250C>T MANE Select NP_002225.2:p.Ser417Phe