Canonical Allele Identifier: CA1039985394
Gene: FRZB HGNC NCBI

Linked Data

dbSNP Id: rs1695555966
gnomAD v3: 2-182838793-C-T
gnomAD v4: 2-182838793-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.182838793C>T , CM000664.2:g.182838793C>T GRCh38
NC_000002.11:g.183703521C>T , CM000664.1:g.183703521C>T GRCh37
NC_000002.10:g.183411766C>T NCBI36
NG_017197.1:g.32978G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000295113.5:c.593-180G>A MANE Select ENSP00000295113.4:n.593-180G>A
ENST00000295113.4:c.593-180G>A ENSP00000295113.4:n.593-180G>A
NM_001463.3:c.593-180G>A NP_001454.2:n.593-180G>A
NM_001463.4:c.593-180G>A MANE Select NP_001454.2:n.593-180G>A
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