Canonical Allele Identifier: CA383466635
Gene: KCNA5 HGNC NCBI

Linked Data

dbSNP Id: rs754755935
gnomAD v3: 12-5045653-C-G
gnomAD v4: 12-5045653-C-G
MyVariant Identifiers: chr12:g.5154819C>G (hg19) chr12:g.5045653C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5045653C>G , CM000674.2:g.5045653C>G GRCh38
NC_000012.11:g.5154819C>G , CM000674.1:g.5154819C>G GRCh37
NC_000012.10:g.5025080C>G NCBI36
NG_012198.1:g.6735C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.1506C>G MANE Select ENSP00000252321.3:p.Ile502Met
ENST00000252321.4:c.1506C>G ENSP00000252321.3:p.Ile502Met
NM_002234.3:c.1506C>G NP_002225.2:p.Ile502Met
NM_002234.4:c.1506C>G MANE Select NP_002225.2:p.Ile502Met
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