Canonical Allele Identifier: CA106878341
Gene: FREM3 HGNC NCBI

Linked Data

dbSNP Id: rs1038830663
gnomAD v2: 4-144616398-T-A
gnomAD v3: 4-143695245-T-A
gnomAD v4: 4-143695245-T-A
MyVariant Identifiers: chr4:g.144616398T>A (hg19) chr4:g.143695245T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.143695245T>A , CM000666.2:g.143695245T>A GRCh38
NC_000004.11:g.144616398T>A , CM000666.1:g.144616398T>A GRCh37
NC_000004.10:g.144835848T>A NCBI36
NG_052820.1:g.10431A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000329798.5:c.5185+246A>T MANE Select ENSP00000332886.5:n.5185+246A>T
NM_001168235.1:c.5185+246A>T NP_001161707.1:n.5185+246A>T
NM_001168235.2:c.5185+246A>T MANE Select NP_001161707.1:n.5185+246A>T
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