Canonical Allele Identifier: CA106871828
Gene: FREM3 HGNC NCBI
GUSBP5 HGNC NCBI

Linked Data

dbSNP Id: rs1003671342
gnomAD v3: 4-143582518-A-G
gnomAD v4: 4-143582518-A-G
MyVariant Identifiers: chr4:g.144503671A>G (hg19) chr4:g.143582518A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.143582518A>G , CM000666.2:g.143582518A>G GRCh38
NC_000004.11:g.144503671A>G , CM000666.1:g.144503671A>G GRCh37
NC_000004.10:g.144723121A>G NCBI36
NG_052820.1:g.123158T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000329798.5:c.6178+3326T>C (FREM3) MANE Select ENSP00000332886.5:n.6178+3326T>C
ENST00000511042.5:n.191+9937A>G (GUSBP5)
NM_001168235.1:c.6178+3326T>C (FREM3) NP_001161707.1:n.6178+3326T>C
NM_001168235.2:c.6178+3326T>C (FREM3) MANE Select NP_001161707.1:n.6178+3326T>C
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