Canonical Allele Identifier: CA6399659
Gene: KCNA5 HGNC NCBI

Linked Data

ClinVar Variation Id: 469595
ClinVar RCV Id: RCV000533539 RCV001539333 RCV003925668 RCV003323608
dbSNP Id: rs12720444
ExAC: 12:5153883 C / T
gnomAD v2: 12-5153883-C-T
gnomAD v3: 12-5044717-C-T
gnomAD v4: 12-5044717-C-T
MyVariant Identifiers: chr12:g.5153883C>T (hg19) chr12:g.5044717C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5044717C>T , CM000674.2:g.5044717C>T GRCh38
NC_000012.11:g.5153883C>T , CM000674.1:g.5153883C>T GRCh37
NC_000012.10:g.5024144C>T NCBI36
NG_012198.1:g.5799C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.570C>T MANE Select ENSP00000252321.3:p.Asn190=
ENST00000252321.4:c.570C>T ENSP00000252321.3:p.Asn190=
NM_002234.3:c.570C>T NP_002225.2:p.Asn190=
NM_002234.4:c.570C>T MANE Select NP_002225.2:p.Asn190=
Search 100 bp 5'
Search 100 bp 3'