Canonical Allele Identifier: CA366525108

Gene: FAM20C

Linked Data

• MyVariant Identifiers: chr7:g.295842G>T (hg19) ; chr7:g.255876G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.255876G>T , CM000669.2:g.255876G>T	GRCh38
NC_000007.13:g.295842G>T , CM000669.1:g.295842G>T	GRCh37
NG_033970.1:g.65512G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313766.6:c.1100G>T MANE Select	ENSP00000322323.5:p.Cys367Phe
ENST00000313766.5:c.1100G>T	ENSP00000322323.5:p.Cys367Phe
ENST00000515795.1:n.757G>T
NM_020223.3:c.1100G>T	NP_064608.2:p.Cys367Phe
XR_242097.3:n.1247G>T
XM_017012450.1:c.1361G>T	XP_016867939.1:p.Cys454Phe
XM_017012451.1:c.1358G>T	XP_016867940.1:p.Cys453Phe
XM_017012455.2:c.398G>T	XP_016867944.1:p.Cys133Phe
NM_020223.4:c.1100G>T MANE Select	NP_064608.2:p.Cys367Phe