Canonical Allele Identifier: CA1039985218
Gene: FRZB HGNC NCBI

Linked Data

dbSNP Id: rs1695549924
gnomAD v3: 2-182838352-T-G
gnomAD v4: 2-182838352-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.182838352T>G , CM000664.2:g.182838352T>G GRCh38
NC_000002.11:g.183703080T>G , CM000664.1:g.183703080T>G GRCh37
NC_000002.10:g.183411325T>G NCBI36
NG_017197.1:g.33419A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000295113.5:c.797+57A>C MANE Select ENSP00000295113.4:n.797+57A>C
ENST00000295113.4:c.797+57A>C ENSP00000295113.4:n.797+57A>C
NM_001463.3:c.797+57A>C NP_001454.2:n.797+57A>C
NM_001463.4:c.797+57A>C MANE Select NP_001454.2:n.797+57A>C
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