Canonical Allele Identifier: CA383464744
Gene: KCNA5 HGNC NCBI

Linked Data

dbSNP Id: rs1275665670
gnomAD v2: 12-5153903-C-T
gnomAD v4: 12-5044737-C-T
COSMIC: COSM1177606
MyVariant Identifiers: chr12:g.5153903C>T (hg19) chr12:g.5044737C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5044737C>T , CM000674.2:g.5044737C>T GRCh38
NC_000012.11:g.5153903C>T , CM000674.1:g.5153903C>T GRCh37
NC_000012.10:g.5024164C>T NCBI36
NG_012198.1:g.5819C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.590C>T MANE Select ENSP00000252321.3:p.Ala197Val
ENST00000252321.4:c.590C>T ENSP00000252321.3:p.Ala197Val
NM_002234.3:c.590C>T NP_002225.2:p.Ala197Val
NM_002234.4:c.590C>T MANE Select NP_002225.2:p.Ala197Val
Search 100 bp 5'
Search 100 bp 3'