Canonical Allele Identifier: CA250014

Gene: FAM20C

Linked Data

• ClinVar Variation Id: 1026
• ClinVar RCV Id: RCV000001081
• dbSNP Id: rs796051851
• MyVariant Identifiers: chr7:g.288278C>G (hg19) ; chr7:g.248312C>G (hg38)
• PubMed: PMID:12868469 ; PMID:17924334

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.248312C>G , CM000669.2:g.248312C>G	GRCh38
NC_000007.13:g.288278C>G , CM000669.1:g.288278C>G	GRCh37
NG_033970.1:g.57948C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313766.6:c.957-3C>G MANE Select	ENSP00000322323.5:n.957-3C>G
ENST00000313766.5:c.957-3C>G	ENSP00000322323.5:n.957-3C>G
ENST00000515795.1:n.614-3C>G
NM_020223.3:c.957-3C>G	NP_064608.2:n.957-3C>G
XR_242097.3:n.1104-3C>G
XM_017012450.1:c.1218-3C>G	XP_016867939.1:n.1218-3C>G
XM_017012451.1:c.1215-3C>G	XP_016867940.1:n.1215-3C>G
XM_017012452.1:c.1218-3C>G	XP_016867941.1:n.1218-3C>G
XM_017012455.2:c.255-3C>G	XP_016867944.1:n.255-3C>G
XR_001744837.1:n.1104-3C>G
NM_020223.4:c.957-3C>G MANE Select	NP_064608.2:n.957-3C>G