Canonical Allele Identifier: CA1039985214
Gene: FRZB HGNC NCBI

Linked Data

dbSNP Id: rs1695549831
gnomAD v3: 2-182838331-G-T
gnomAD v4: 2-182838331-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.182838331G>T , CM000664.2:g.182838331G>T GRCh38
NC_000002.11:g.183703059G>T , CM000664.1:g.183703059G>T GRCh37
NC_000002.10:g.183411304G>T NCBI36
NG_017197.1:g.33440C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000295113.5:c.797+78C>A MANE Select ENSP00000295113.4:n.797+78C>A
ENST00000295113.4:c.797+78C>A ENSP00000295113.4:n.797+78C>A
NM_001463.3:c.797+78C>A NP_001454.2:n.797+78C>A
NM_001463.4:c.797+78C>A MANE Select NP_001454.2:n.797+78C>A
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