Canonical Allele Identifier: CA555086301
Gene: FREM3 HGNC NCBI

Linked Data

dbSNP Id: rs1423402843
gnomAD v2: 4-144616270-C-T
gnomAD v3: 4-143695117-C-T
gnomAD v4: 4-143695117-C-T
MyVariant Identifiers: chr4:g.144616270C>T (hg19) chr4:g.143695117C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.143695117C>T , CM000666.2:g.143695117C>T GRCh38
NC_000004.11:g.144616270C>T , CM000666.1:g.144616270C>T GRCh37
NC_000004.10:g.144835720C>T NCBI36
NG_052820.1:g.10559G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000329798.5:c.5185+374G>A MANE Select ENSP00000332886.5:n.5185+374G>A
NM_001168235.1:c.5185+374G>A NP_001161707.1:n.5185+374G>A
NM_001168235.2:c.5185+374G>A MANE Select NP_001161707.1:n.5185+374G>A
Search 100 bp 5'
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