Canonical Allele Identifier: CA1039985368
Gene: FRZB HGNC NCBI

Linked Data

dbSNP Id: rs1574982119
gnomAD v3: 2-182838743-G-A
gnomAD v4: 2-182838743-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.182838743G>A , CM000664.2:g.182838743G>A GRCh38
NC_000002.11:g.183703471G>A , CM000664.1:g.183703471G>A GRCh37
NC_000002.10:g.183411716G>A NCBI36
NG_017197.1:g.33028C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000295113.5:c.593-130C>T MANE Select ENSP00000295113.4:n.593-130C>T
ENST00000295113.4:c.593-130C>T ENSP00000295113.4:n.593-130C>T
NM_001463.3:c.593-130C>T NP_001454.2:n.593-130C>T
NM_001463.4:c.593-130C>T MANE Select NP_001454.2:n.593-130C>T
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Search 100 bp 3'