Canonical Allele Identifier: CA6399942
Gene: KCNA5 HGNC NCBI

Linked Data

dbSNP Id: rs779699586
ExAC: 12:5155075 G / C
gnomAD v2: 12-5155075-G-C
gnomAD v4: 12-5045909-G-C
MyVariant Identifiers: chr12:g.5155075G>C (hg19) chr12:g.5045909G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5045909G>C , CM000674.2:g.5045909G>C GRCh38
NC_000012.11:g.5155075G>C , CM000674.1:g.5155075G>C GRCh37
NC_000012.10:g.5025336G>C NCBI36
NG_012198.1:g.6991G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.1762G>C MANE Select ENSP00000252321.3:p.Val588Leu
ENST00000252321.4:c.1762G>C ENSP00000252321.3:p.Val588Leu
NM_002234.3:c.1762G>C NP_002225.2:p.Val588Leu
NM_002234.4:c.1762G>C MANE Select NP_002225.2:p.Val588Leu
Search 100 bp 5'
Search 100 bp 3'