Canonical Allele Identifier: CA478095866
Gene: KCNA5 HGNC NCBI

Linked Data

dbSNP Id: rs1203825086
gnomAD v2: 12-5155017-G-A
gnomAD v4: 12-5045851-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5045851G>A , CM000674.2:g.5045851G>A GRCh38
NC_000012.11:g.5155017G>A , CM000674.1:g.5155017G>A GRCh37
NC_000012.10:g.5025278G>A NCBI36
NG_012198.1:g.6933G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.1704G>A MANE Select ENSP00000252321.3:p.Gly568=
ENST00000252321.4:c.1704G>A ENSP00000252321.3:p.Gly568=
NM_002234.3:c.1704G>A NP_002225.2:p.Gly568=
NM_002234.4:c.1704G>A MANE Select NP_002225.2:p.Gly568=