Canonical Allele Identifier: CA788393148
Gene: FREM3 HGNC NCBI

Linked Data

dbSNP Id: rs1479466224
gnomAD v3: 4-143695166-C-A
gnomAD v4: 4-143695166-C-A
MyVariant Identifiers: chr4:g.144616319C>A (hg19) chr4:g.143695166C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.143695166C>A , CM000666.2:g.143695166C>A GRCh38
NC_000004.11:g.144616319C>A , CM000666.1:g.144616319C>A GRCh37
NC_000004.10:g.144835769C>A NCBI36
NG_052820.1:g.10510G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000329798.5:c.5185+325G>T MANE Select ENSP00000332886.5:n.5185+325G>T
NM_001168235.1:c.5185+325G>T NP_001161707.1:n.5185+325G>T
NM_001168235.2:c.5185+325G>T MANE Select NP_001161707.1:n.5185+325G>T
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