Canonical Allele Identifier: CA6399824
Gene: KCNA5 HGNC NCBI

Linked Data

dbSNP Id: rs759228414
ExAC: 12:5154525 G / C
gnomAD v2: 12-5154525-G-C
gnomAD v4: 12-5045359-G-C
COSMIC: COSM1578312
MyVariant Identifiers: chr12:g.5154525G>C (hg19) chr12:g.5045359G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5045359G>C , CM000674.2:g.5045359G>C GRCh38
NC_000012.11:g.5154525G>C , CM000674.1:g.5154525G>C GRCh37
NC_000012.10:g.5024786G>C NCBI36
NG_012198.1:g.6441G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.1212G>C MANE Select ENSP00000252321.3:p.Leu404=
ENST00000252321.4:c.1212G>C ENSP00000252321.3:p.Leu404=
NM_002234.3:c.1212G>C NP_002225.2:p.Leu404=
NM_002234.4:c.1212G>C MANE Select NP_002225.2:p.Leu404=
Search 100 bp 5'
Search 100 bp 3'