Canonical Allele Identifier: CA603072768
Gene: KCNA5 HGNC NCBI

Linked Data

dbSNP Id: rs1446113976
gnomAD v2: 12-5155171-G-C
gnomAD v3: 12-5046005-G-C
gnomAD v4: 12-5046005-G-C
MyVariant Identifiers: chr12:g.5155171G>C (hg19) chr12:g.5046005G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5046005G>C , CM000674.2:g.5046005G>C GRCh38
NC_000012.11:g.5155171G>C , CM000674.1:g.5155171G>C GRCh37
NC_000012.10:g.5025432G>C NCBI36
NG_012198.1:g.7087G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.*16G>C MANE Select ENSP00000252321.3:n.*16G>C
ENST00000252321.4:c.*16G>C ENSP00000252321.3:n.*16G>C
NM_002234.3:c.*16G>C NP_002225.2:n.*16G>C
NM_002234.4:c.*16G>C MANE Select NP_002225.2:n.*16G>C
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