Canonical Allele Identifier: CA231868734
Gene: KCNA5 HGNC NCBI

Linked Data

dbSNP Id: rs946351693
gnomAD v4: 12-5045398-C-T
MyVariant Identifiers: chr12:g.5154564C>T (hg19) chr12:g.5045398C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5045398C>T , CM000674.2:g.5045398C>T GRCh38
NC_000012.11:g.5154564C>T , CM000674.1:g.5154564C>T GRCh37
NC_000012.10:g.5024825C>T NCBI36
NG_012198.1:g.6480C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.1251C>T MANE Select ENSP00000252321.3:p.Ser417=
ENST00000252321.4:c.1251C>T ENSP00000252321.3:p.Ser417=
NM_002234.3:c.1251C>T NP_002225.2:p.Ser417=
NM_002234.4:c.1251C>T MANE Select NP_002225.2:p.Ser417=
Search 100 bp 5'
Search 100 bp 3'