Canonical Allele Identifier: CA1068990001
Gene: FREM3 HGNC NCBI

Linked Data

dbSNP Id: rs1740541456
gnomAD v3: 4-143695129-C-T
gnomAD v4: 4-143695129-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.143695129C>T , CM000666.2:g.143695129C>T GRCh38
NC_000004.11:g.144616282C>T , CM000666.1:g.144616282C>T GRCh37
NC_000004.10:g.144835732C>T NCBI36
NG_052820.1:g.10547G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000329798.5:c.5185+362G>A MANE Select ENSP00000332886.5:n.5185+362G>A
NM_001168235.1:c.5185+362G>A NP_001161707.1:n.5185+362G>A
NM_001168235.2:c.5185+362G>A MANE Select NP_001161707.1:n.5185+362G>A
Search 100 bp 5'
Search 100 bp 3'