Canonical Allele Identifier: CA383464822
Gene: KCNA5 HGNC NCBI

Linked Data

ClinVar Variation Id: 658568
ClinVar RCV Id: RCV000815419
dbSNP Id: rs1228879118
gnomAD v2: 12-5153942-T-C
gnomAD v4: 12-5044776-T-C
MyVariant Identifiers: chr12:g.5153942T>C (hg19) chr12:g.5044776T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5044776T>C , CM000674.2:g.5044776T>C GRCh38
NC_000012.11:g.5153942T>C , CM000674.1:g.5153942T>C GRCh37
NC_000012.10:g.5024203T>C NCBI36
NG_012198.1:g.5858T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.629T>C MANE Select ENSP00000252321.3:p.Met210Thr
ENST00000252321.4:c.629T>C ENSP00000252321.3:p.Met210Thr
NM_002234.3:c.629T>C NP_002225.2:p.Met210Thr
NM_002234.4:c.629T>C MANE Select NP_002225.2:p.Met210Thr
Search 100 bp 5'
Search 100 bp 3'