Canonical Allele Identifier: CA788393182
Gene: FREM3 HGNC NCBI

Linked Data

dbSNP Id: rs1249551494

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.143695272A>C , CM000666.2:g.143695272A>C GRCh38
NC_000004.11:g.144616425A>C , CM000666.1:g.144616425A>C GRCh37
NC_000004.10:g.144835875A>C NCBI36
NG_052820.1:g.10404T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000329798.5:c.5185+219T>G MANE Select ENSP00000332886.5:n.5185+219T>G
NM_001168235.1:c.5185+219T>G NP_001161707.1:n.5185+219T>G
NM_001168235.2:c.5185+219T>G MANE Select NP_001161707.1:n.5185+219T>G