Canonical Allele Identifier: CA383464969
Gene: KCNA5 HGNC NCBI

Linked Data

dbSNP Id: rs1266301163
gnomAD v2: 12-5154009-C-A
gnomAD v4: 12-5044843-C-A
MyVariant Identifiers: chr12:g.5154009C>A (hg19) chr12:g.5044843C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5044843C>A , CM000674.2:g.5044843C>A GRCh38
NC_000012.11:g.5154009C>A , CM000674.1:g.5154009C>A GRCh37
NC_000012.10:g.5024270C>A NCBI36
NG_012198.1:g.5925C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.696C>A MANE Select ENSP00000252321.3:p.Phe232Leu
ENST00000252321.4:c.696C>A ENSP00000252321.3:p.Phe232Leu
NM_002234.3:c.696C>A NP_002225.2:p.Phe232Leu
NM_002234.4:c.696C>A MANE Select NP_002225.2:p.Phe232Leu
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