Canonical Allele Identifier: CA106878351

Gene: FREM3

Linked Data

• dbSNP Id: rs1007867120
• gnomAD v3: 4-143695268-A-G
• gnomAD v4: 4-143695268-A-G
• MyVariant Identifiers: chr4:g.144616421A>G (hg19) ; chr4:g.143695268A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.143695268A>G , CM000666.2:g.143695268A>G	GRCh38
NC_000004.11:g.144616421A>G , CM000666.1:g.144616421A>G	GRCh37
NC_000004.10:g.144835871A>G	NCBI36
NG_052820.1:g.10408T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329798.5:c.5185+223T>C MANE Select	ENSP00000332886.5:n.5185+223T>C
NM_001168235.1:c.5185+223T>C	NP_001161707.1:n.5185+223T>C
NM_001168235.2:c.5185+223T>C MANE Select	NP_001161707.1:n.5185+223T>C