Canonical Allele Identifier: CA1068990010
Gene: FREM3 HGNC NCBI

Linked Data

dbSNP Id: rs1740542419
gnomAD v3: 4-143695177-T-C
gnomAD v4: 4-143695177-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.143695177T>C , CM000666.2:g.143695177T>C GRCh38
NC_000004.11:g.144616330T>C , CM000666.1:g.144616330T>C GRCh37
NC_000004.10:g.144835780T>C NCBI36
NG_052820.1:g.10499A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000329798.5:c.5185+314A>G MANE Select ENSP00000332886.5:n.5185+314A>G
NM_001168235.1:c.5185+314A>G NP_001161707.1:n.5185+314A>G
NM_001168235.2:c.5185+314A>G MANE Select NP_001161707.1:n.5185+314A>G
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