Canonical Allele Identifier: CA2605311930
Gene: FREM3 HGNC NCBI

Linked Data

dbSNP Id: rs2149863689
gnomAD v3: 4-143695218-C-A
gnomAD v4: 4-143695218-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.143695218C>A , CM000666.2:g.143695218C>A GRCh38
NC_000004.11:g.144616371C>A , CM000666.1:g.144616371C>A GRCh37
NC_000004.10:g.144835821C>A NCBI36
NG_052820.1:g.10458G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000329798.5:c.5185+273G>T MANE Select ENSP00000332886.5:n.5185+273G>T
NM_001168235.1:c.5185+273G>T NP_001161707.1:n.5185+273G>T
NM_001168235.2:c.5185+273G>T MANE Select NP_001161707.1:n.5185+273G>T
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