Canonical Allele Identifier: CA106874344
Gene: FREM3 HGNC NCBI
GUSBP5 HGNC NCBI

Linked Data

dbSNP Id: rs1027027435
MyVariant Identifiers: chr4:g.144508838G>T (hg19) chr4:g.143587685G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.143587685G>T , CM000666.2:g.143587685G>T GRCh38
NC_000004.11:g.144508838G>T , CM000666.1:g.144508838G>T GRCh37
NC_000004.10:g.144728288G>T NCBI36
NG_052820.1:g.117991C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000329798.5:c.6029-1692C>A (FREM3) MANE Select ENSP00000332886.5:n.6029-1692C>A
ENST00000511042.5:n.191+15104G>T (GUSBP5)
NM_001168235.1:c.6029-1692C>A (FREM3) NP_001161707.1:n.6029-1692C>A
NM_001168235.2:c.6029-1692C>A (FREM3) MANE Select NP_001161707.1:n.6029-1692C>A
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