Canonical Allele Identifier: CA6399955
Gene: KCNA5 HGNC NCBI

Linked Data

ClinVar Variation Id: 566746
ClinVar RCV Id: RCV000686638
dbSNP Id: rs765166524
ExAC: 12:5155145 C / A
gnomAD v2: 12-5155145-C-A
gnomAD v4: 12-5045979-C-A
MyVariant Identifiers: chr12:g.5155145C>A (hg19) chr12:g.5045979C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5045979C>A , CM000674.2:g.5045979C>A GRCh38
NC_000012.11:g.5155145C>A , CM000674.1:g.5155145C>A GRCh37
NC_000012.10:g.5025406C>A NCBI36
NG_012198.1:g.7061C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.1832C>A MANE Select ENSP00000252321.3:p.Thr611Lys
ENST00000252321.4:c.1832C>A ENSP00000252321.3:p.Thr611Lys
NM_002234.3:c.1832C>A NP_002225.2:p.Thr611Lys
NM_002234.4:c.1832C>A MANE Select NP_002225.2:p.Thr611Lys
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