Canonical Allele Identifier: CA383461716
Gene: KCNA5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2584602
ClinVar RCV Id: RCV003336042
dbSNP Id: rs1174382266
gnomAD v2: 12-5153323-G-T
gnomAD v3: 12-5044157-G-T
gnomAD v4: 12-5044157-G-T
MyVariant Identifiers: chr12:g.5153323G>T (hg19) chr12:g.5044157G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5044157G>T , CM000674.2:g.5044157G>T GRCh38
NC_000012.11:g.5153323G>T , CM000674.1:g.5153323G>T GRCh37
NC_000012.10:g.5023584G>T NCBI36
NG_012198.1:g.5239G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.10G>T MANE Select ENSP00000252321.3:p.Ala4Ser
ENST00000252321.4:c.10G>T ENSP00000252321.3:p.Ala4Ser
NM_002234.3:c.10G>T NP_002225.2:p.Ala4Ser
NM_002234.4:c.10G>T MANE Select NP_002225.2:p.Ala4Ser
Search 100 bp 5'
Search 100 bp 3'