Canonical Allele Identifier: CA383464884
Gene: KCNA5 HGNC NCBI

Linked Data

dbSNP Id: rs1162254935
gnomAD v2: 12-5153971-A-C
gnomAD v4: 12-5044805-A-C
MyVariant Identifiers: chr12:g.5153971A>C (hg19) chr12:g.5044805A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5044805A>C , CM000674.2:g.5044805A>C GRCh38
NC_000012.11:g.5153971A>C , CM000674.1:g.5153971A>C GRCh37
NC_000012.10:g.5024232A>C NCBI36
NG_012198.1:g.5887A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000252321.5:c.658A>C MANE Select ENSP00000252321.3:p.Ile220Leu
ENST00000252321.4:c.658A>C ENSP00000252321.3:p.Ile220Leu
NM_002234.3:c.658A>C NP_002225.2:p.Ile220Leu
NM_002234.4:c.658A>C MANE Select NP_002225.2:p.Ile220Leu
Search 100 bp 5'
Search 100 bp 3'