Canonical Allele Identifier: CA366519456
Gene: FAM20C HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.208909G>C , CM000669.2:g.208909G>C GRCh38
NC_000007.13:g.208909G>C , CM000669.1:g.208909G>C GRCh37
NC_000007.12:g.303992G>C NCBI36
NG_033970.1:g.20941G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000313766.6:c.796G>C MANE Select ENSP00000322323.5:p.Gly266Arg
ENST00000313766.5:c.796G>C ENSP00000322323.5:p.Gly266Arg
ENST00000477004.1:n.277G>C
NM_020223.3:c.796G>C NP_064608.2:p.Gly266Arg
XR_242097.3:n.1010+13177G>C
XM_017012450.1:c.1057G>C XP_016867939.1:p.Gly353Arg
XM_017012451.1:c.1054G>C XP_016867940.1:p.Gly352Arg
XM_017012452.1:c.1057G>C XP_016867941.1:p.Gly353Arg
XM_017012453.1:c.1057G>C XP_016867942.1:p.Gly353Arg
XM_017012455.2:c.94G>C XP_016867944.1:p.Gly32Arg
XR_001744837.1:n.1010+13177G>C
NM_020223.4:c.796G>C MANE Select NP_064608.2:p.Gly266Arg