Canonical Allele Identifier: CA6399670
Gene: KCNA5 HGNC NCBI

Linked Data

ClinVar Variation Id: 469596
ClinVar RCV Id: RCV000543745 RCV001683575
dbSNP Id: rs12720443
ExAC: 12:5153928 G / C
gnomAD v2: 12-5153928-G-C
gnomAD v3: 12-5044762-G-C
gnomAD v4: 12-5044762-G-C
MyVariant Identifiers: chr12:g.5153928G>C (hg19) chr12:g.5044762G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5044762G>C , CM000674.2:g.5044762G>C GRCh38
NC_000012.11:g.5153928G>C , CM000674.1:g.5153928G>C GRCh37
NC_000012.10:g.5024189G>C NCBI36
NG_012198.1:g.5844G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.615G>C MANE Select ENSP00000252321.3:p.Leu205=
ENST00000252321.4:c.615G>C ENSP00000252321.3:p.Leu205=
NM_002234.3:c.615G>C NP_002225.2:p.Leu205=
NM_002234.4:c.615G>C MANE Select NP_002225.2:p.Leu205=
Search 100 bp 5'
Search 100 bp 3'