Canonical Allele Identifier: CA383466066
Gene: KCNA5 HGNC NCBI

Linked Data

gnomAD v4: 12-5045390-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5045390C>G , CM000674.2:g.5045390C>G GRCh38
NC_000012.11:g.5154556C>G , CM000674.1:g.5154556C>G GRCh37
NC_000012.10:g.5024817C>G NCBI36
NG_012198.1:g.6472C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.1243C>G MANE Select ENSP00000252321.3:p.Arg415Gly
ENST00000252321.4:c.1243C>G ENSP00000252321.3:p.Arg415Gly
NM_002234.3:c.1243C>G NP_002225.2:p.Arg415Gly
NM_002234.4:c.1243C>G MANE Select NP_002225.2:p.Arg415Gly