Canonical Allele Identifier: CA383462039
Gene: KCNA5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1426309
ClinVar RCV Id: RCV001929346
dbSNP Id: rs1443253465
gnomAD v4: 12-5044320-G-T
MyVariant Identifiers: chr12:g.5153486G>T (hg19) chr12:g.5044320G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5044320G>T , CM000674.2:g.5044320G>T GRCh38
NC_000012.11:g.5153486G>T , CM000674.1:g.5153486G>T GRCh37
NC_000012.10:g.5023747G>T NCBI36
NG_012198.1:g.5402G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.173G>T MANE Select ENSP00000252321.3:p.Arg58Ile
ENST00000252321.4:c.173G>T ENSP00000252321.3:p.Arg58Ile
NM_002234.3:c.173G>T NP_002225.2:p.Arg58Ile
NM_002234.4:c.173G>T MANE Select NP_002225.2:p.Arg58Ile
Search 100 bp 5'
Search 100 bp 3'