Canonical Allele Identifier: CA555095884
Gene: FREM3 HGNC NCBI
GUSBP5 HGNC NCBI

Linked Data

dbSNP Id: rs1200659256
gnomAD v2: 4-144503702-T-G
gnomAD v3: 4-143582549-T-G
gnomAD v4: 4-143582549-T-G
MyVariant Identifiers: chr4:g.144503702T>G (hg19) chr4:g.143582549T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.143582549T>G , CM000666.2:g.143582549T>G GRCh38
NC_000004.11:g.144503702T>G , CM000666.1:g.144503702T>G GRCh37
NC_000004.10:g.144723152T>G NCBI36
NG_052820.1:g.123127A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000329798.5:c.6178+3295A>C (FREM3) MANE Select ENSP00000332886.5:n.6178+3295A>C
ENST00000511042.5:n.191+9968T>G (GUSBP5)
NM_001168235.1:c.6178+3295A>C (FREM3) NP_001161707.1:n.6178+3295A>C
NM_001168235.2:c.6178+3295A>C (FREM3) MANE Select NP_001161707.1:n.6178+3295A>C
Search 100 bp 5'
Search 100 bp 3'