Canonical Allele Identifier: CA106878330
Gene: FREM3 HGNC NCBI

Linked Data

dbSNP Id: rs747363772
gnomAD v2: 4-144616386-C-T
gnomAD v3: 4-143695233-C-T
gnomAD v4: 4-143695233-C-T
MyVariant Identifiers: chr4:g.144616386C>T (hg19) chr4:g.143695233C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.143695233C>T , CM000666.2:g.143695233C>T GRCh38
NC_000004.11:g.144616386C>T , CM000666.1:g.144616386C>T GRCh37
NC_000004.10:g.144835836C>T NCBI36
NG_052820.1:g.10443G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000329798.5:c.5185+258G>A MANE Select ENSP00000332886.5:n.5185+258G>A
NM_001168235.1:c.5185+258G>A NP_001161707.1:n.5185+258G>A
NM_001168235.2:c.5185+258G>A MANE Select NP_001161707.1:n.5185+258G>A
Search 100 bp 5'
Search 100 bp 3'