Canonical Allele Identifier: CA1039985364
Gene: FRZB HGNC NCBI

Linked Data

dbSNP Id: rs1695555503
gnomAD v3: 2-182838736-C-G
gnomAD v4: 2-182838736-C-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.182838736C>G , CM000664.2:g.182838736C>G GRCh38
NC_000002.11:g.183703464C>G , CM000664.1:g.183703464C>G GRCh37
NC_000002.10:g.183411709C>G NCBI36
NG_017197.1:g.33035G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000295113.5:c.593-123G>C MANE Select ENSP00000295113.4:n.593-123G>C
ENST00000295113.4:c.593-123G>C ENSP00000295113.4:n.593-123G>C
NM_001463.3:c.593-123G>C NP_001454.2:n.593-123G>C
NM_001463.4:c.593-123G>C MANE Select NP_001454.2:n.593-123G>C
Search 100 bp 5'
Search 100 bp 3'