Canonical Allele Identifier: CA383462001

Gene: KCNA5

Linked Data

• dbSNP Id: rs1591661111
• gnomAD v3: 12-5044301-A-C
• gnomAD v4: 12-5044301-A-C
• MyVariant Identifiers: chr12:g.5153467A>C (hg19) ; chr12:g.5044301A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.5044301A>C , CM000674.2:g.5044301A>C	GRCh38
NC_000012.11:g.5153467A>C , CM000674.1:g.5153467A>C	GRCh37
NC_000012.10:g.5023728A>C	NCBI36
NG_012198.1:g.5383A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252321.5:c.154A>C MANE Select	ENSP00000252321.3:p.Lys52Gln
ENST00000252321.4:c.154A>C	ENSP00000252321.3:p.Lys52Gln
NM_002234.3:c.154A>C	NP_002225.2:p.Lys52Gln
NM_002234.4:c.154A>C MANE Select	NP_002225.2:p.Lys52Gln