Canonical Allele Identifier: CA6399797
Gene: KCNA5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2713308
ClinVar RCV Id: RCV003515750
dbSNP Id: rs780720700
ExAC: 12:5154383 T / C
gnomAD v2: 12-5154383-T-C
gnomAD v4: 12-5045217-T-C
MyVariant Identifiers: chr12:g.5154383T>C (hg19) chr12:g.5045217T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5045217T>C , CM000674.2:g.5045217T>C GRCh38
NC_000012.11:g.5154383T>C , CM000674.1:g.5154383T>C GRCh37
NC_000012.10:g.5024644T>C NCBI36
NG_012198.1:g.6299T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.1070T>C MANE Select ENSP00000252321.3:p.Met357Thr
ENST00000252321.4:c.1070T>C ENSP00000252321.3:p.Met357Thr
NM_002234.3:c.1070T>C NP_002225.2:p.Met357Thr
NM_002234.4:c.1070T>C MANE Select NP_002225.2:p.Met357Thr
Search 100 bp 5'
Search 100 bp 3'