Canonical Allele Identifier: CA788373195
Gene: FREM3 HGNC NCBI
GUSBP5 HGNC NCBI

Linked Data

dbSNP Id: rs1380057332
gnomAD v3: 4-143587668-T-C
gnomAD v4: 4-143587668-T-C
MyVariant Identifiers: chr4:g.144508821T>C (hg19) chr4:g.143587668T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.143587668T>C , CM000666.2:g.143587668T>C GRCh38
NC_000004.11:g.144508821T>C , CM000666.1:g.144508821T>C GRCh37
NC_000004.10:g.144728271T>C NCBI36
NG_052820.1:g.118008A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000329798.5:c.6029-1675A>G (FREM3) MANE Select ENSP00000332886.5:n.6029-1675A>G
ENST00000511042.5:n.191+15087T>C (GUSBP5)
NM_001168235.1:c.6029-1675A>G (FREM3) NP_001161707.1:n.6029-1675A>G
NM_001168235.2:c.6029-1675A>G (FREM3) MANE Select NP_001161707.1:n.6029-1675A>G
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