Canonical Allele Identifier: CA788393173
Gene: FREM3 HGNC NCBI

Linked Data

dbSNP Id: rs1364260228
gnomAD v3: 4-143695253-T-G
gnomAD v4: 4-143695253-T-G
MyVariant Identifiers: chr4:g.144616406T>G (hg19) chr4:g.143695253T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.143695253T>G , CM000666.2:g.143695253T>G GRCh38
NC_000004.11:g.144616406T>G , CM000666.1:g.144616406T>G GRCh37
NC_000004.10:g.144835856T>G NCBI36
NG_052820.1:g.10423A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000329798.5:c.5185+238A>C MANE Select ENSP00000332886.5:n.5185+238A>C
NM_001168235.1:c.5185+238A>C NP_001161707.1:n.5185+238A>C
NM_001168235.2:c.5185+238A>C MANE Select NP_001161707.1:n.5185+238A>C
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