Canonical Allele Identifier: CA1039985372
Gene: FRZB HGNC NCBI

Linked Data

dbSNP Id: rs1695555623
gnomAD v3: 2-182838750-A-G
gnomAD v4: 2-182838750-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.182838750A>G , CM000664.2:g.182838750A>G GRCh38
NC_000002.11:g.183703478A>G , CM000664.1:g.183703478A>G GRCh37
NC_000002.10:g.183411723A>G NCBI36
NG_017197.1:g.33021T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000295113.5:c.593-137T>C MANE Select ENSP00000295113.4:n.593-137T>C
ENST00000295113.4:c.593-137T>C ENSP00000295113.4:n.593-137T>C
NM_001463.3:c.593-137T>C NP_001454.2:n.593-137T>C
NM_001463.4:c.593-137T>C MANE Select NP_001454.2:n.593-137T>C
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