Canonical Allele Identifier: CA106871843
Gene: FREM3 HGNC NCBI
GUSBP5 HGNC NCBI

Linked Data

dbSNP Id: rs747486178
gnomAD v3: 4-143582563-T-C
gnomAD v4: 4-143582563-T-C
MyVariant Identifiers: chr4:g.144503716T>C (hg19) chr4:g.143582563T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.143582563T>C , CM000666.2:g.143582563T>C GRCh38
NC_000004.11:g.144503716T>C , CM000666.1:g.144503716T>C GRCh37
NC_000004.10:g.144723166T>C NCBI36
NG_052820.1:g.123113A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000329798.5:c.6178+3281A>G (FREM3) MANE Select ENSP00000332886.5:n.6178+3281A>G
ENST00000511042.5:n.191+9982T>C (GUSBP5)
NM_001168235.1:c.6178+3281A>G (FREM3) NP_001161707.1:n.6178+3281A>G
NM_001168235.2:c.6178+3281A>G (FREM3) MANE Select NP_001161707.1:n.6178+3281A>G
Search 100 bp 5'
Search 100 bp 3'