Canonical Allele Identifier: CA231866648
Gene: KCNA5 HGNC NCBI

Linked Data

ClinVar Variation Id: 882891
ClinVar RCV Id: RCV001112961
dbSNP Id: rs943854010
gnomAD v3: 12-5044063-G-C
gnomAD v4: 12-5044063-G-C
MyVariant Identifiers: chr12:g.5153229G>C (hg19) chr12:g.5044063G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5044063G>C , CM000674.2:g.5044063G>C GRCh38
NC_000012.11:g.5153229G>C , CM000674.1:g.5153229G>C GRCh37
NC_000012.10:g.5023490G>C NCBI36
NG_012198.1:g.5145G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000252321.5:c.-85G>C MANE Select ENSP00000252321.3:n.-85G>C
ENST00000252321.4:c.-85G>C ENSP00000252321.3:n.-85G>C
NM_002234.3:c.-85G>C NP_002225.2:n.-85G>C
NM_002234.4:c.-85G>C MANE Select NP_002225.2:n.-85G>C
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