Canonical Allele Identifier: CA106871824
Gene: FREM3 HGNC NCBI
GUSBP5 HGNC NCBI

Linked Data

dbSNP Id: rs570478758
gnomAD v3: 4-143582507-G-C
gnomAD v4: 4-143582507-G-C
MyVariant Identifiers: chr4:g.144503660G>C (hg19) chr4:g.143582507G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.143582507G>C , CM000666.2:g.143582507G>C GRCh38
NC_000004.11:g.144503660G>C , CM000666.1:g.144503660G>C GRCh37
NC_000004.10:g.144723110G>C NCBI36
NG_052820.1:g.123169C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000329798.5:c.6178+3337C>G (FREM3) MANE Select ENSP00000332886.5:n.6178+3337C>G
ENST00000511042.5:n.191+9926G>C (GUSBP5)
NM_001168235.1:c.6178+3337C>G (FREM3) NP_001161707.1:n.6178+3337C>G
NM_001168235.2:c.6178+3337C>G (FREM3) MANE Select NP_001161707.1:n.6178+3337C>G
Search 100 bp 5'
Search 100 bp 3'