Canonical Allele Identifier: CA788373224
Gene: FREM3 HGNC NCBI
GUSBP5 HGNC NCBI

Linked Data

dbSNP Id: rs1293578654
gnomAD v3: 4-143587701-G-T
gnomAD v4: 4-143587701-G-T
MyVariant Identifiers: chr4:g.144508854G>T (hg19) chr4:g.143587701G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.143587701G>T , CM000666.2:g.143587701G>T GRCh38
NC_000004.11:g.144508854G>T , CM000666.1:g.144508854G>T GRCh37
NC_000004.10:g.144728304G>T NCBI36
NG_052820.1:g.117975C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000329798.5:c.6029-1708C>A (FREM3) MANE Select ENSP00000332886.5:n.6029-1708C>A
ENST00000511042.5:n.191+15120G>T (GUSBP5)
NM_001168235.1:c.6029-1708C>A (FREM3) NP_001161707.1:n.6029-1708C>A
NM_001168235.2:c.6029-1708C>A (FREM3) MANE Select NP_001161707.1:n.6029-1708C>A
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