Canonical Allele Identifier: CA231866737
Gene: KCNA5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1518431
ClinVar RCV Id: RCV002043468 RCV002548904
dbSNP Id: rs995191067
gnomAD v2: 12-5153354-T-G
gnomAD v3: 12-5044188-T-G
gnomAD v4: 12-5044188-T-G
MyVariant Identifiers: chr12:g.5153354T>G (hg19) chr12:g.5044188T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5044188T>G , CM000674.2:g.5044188T>G GRCh38
NC_000012.11:g.5153354T>G , CM000674.1:g.5153354T>G GRCh37
NC_000012.10:g.5023615T>G NCBI36
NG_012198.1:g.5270T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.41T>G MANE Select ENSP00000252321.3:p.Met14Arg
ENST00000252321.4:c.41T>G ENSP00000252321.3:p.Met14Arg
NM_002234.3:c.41T>G NP_002225.2:p.Met14Arg
NM_002234.4:c.41T>G MANE Select NP_002225.2:p.Met14Arg
Search 100 bp 5'
Search 100 bp 3'