Canonical Allele Identifier: CA106871839
Gene: FREM3 HGNC NCBI
GUSBP5 HGNC NCBI

Linked Data

dbSNP Id: rs368933397
MyVariant Identifiers: chr4:g.144503714G>A (hg19) chr4:g.143582561G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.143582561G>A , CM000666.2:g.143582561G>A GRCh38
NC_000004.11:g.144503714G>A , CM000666.1:g.144503714G>A GRCh37
NC_000004.10:g.144723164G>A NCBI36
NG_052820.1:g.123115C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000329798.5:c.6178+3283C>T (FREM3) MANE Select ENSP00000332886.5:n.6178+3283C>T
ENST00000511042.5:n.191+9980G>A (GUSBP5)
NM_001168235.1:c.6178+3283C>T (FREM3) NP_001161707.1:n.6178+3283C>T
NM_001168235.2:c.6178+3283C>T (FREM3) MANE Select NP_001161707.1:n.6178+3283C>T
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