Canonical Allele Identifier: CA383462027

Gene: KCNA5

Linked Data

• dbSNP Id: rs1189244051
• gnomAD v3: 12-5044314-C-G
• gnomAD v4: 12-5044314-C-G
• MyVariant Identifiers: chr12:g.5153480C>G (hg19) ; chr12:g.5044314C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.5044314C>G , CM000674.2:g.5044314C>G	GRCh38
NC_000012.11:g.5153480C>G , CM000674.1:g.5153480C>G	GRCh37
NC_000012.10:g.5023741C>G	NCBI36
NG_012198.1:g.5396C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252321.5:c.167C>G MANE Select	ENSP00000252321.3:p.Ala56Gly
ENST00000252321.4:c.167C>G	ENSP00000252321.3:p.Ala56Gly
NM_002234.3:c.167C>G	NP_002225.2:p.Ala56Gly
NM_002234.4:c.167C>G MANE Select	NP_002225.2:p.Ala56Gly