Canonical Allele Identifier: CA383464986
Gene: KCNA5 HGNC NCBI

Linked Data

dbSNP Id: rs1862754890
gnomAD v3: 12-5044851-A-T
gnomAD v4: 12-5044851-A-T
MyVariant Identifiers: chr12:g.5154017A>T (hg19) chr12:g.5044851A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5044851A>T , CM000674.2:g.5044851A>T GRCh38
NC_000012.11:g.5154017A>T , CM000674.1:g.5154017A>T GRCh37
NC_000012.10:g.5024278A>T NCBI36
NG_012198.1:g.5933A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.704A>T MANE Select ENSP00000252321.3:p.Gln235Leu
ENST00000252321.4:c.704A>T ENSP00000252321.3:p.Gln235Leu
NM_002234.3:c.704A>T NP_002225.2:p.Gln235Leu
NM_002234.4:c.704A>T MANE Select NP_002225.2:p.Gln235Leu
Search 100 bp 5'
Search 100 bp 3'