Canonical Allele Identifier: CA837007390

Gene: FAM20C

Linked Data

• dbSNP Id: rs1441055517
• gnomAD v4: 7-255782-C-T
• MyVariant Identifiers: chr7:g.295748C>T (hg19) ; chr7:g.255782C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.255782C>T , CM000669.2:g.255782C>T	GRCh38
NC_000007.13:g.295748C>T , CM000669.1:g.295748C>T	GRCh37
NG_033970.1:g.65418C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000313766.6:c.1073-67C>T MANE Select	ENSP00000322323.5:n.1073-67C>T
ENST00000313766.5:c.1073-67C>T	ENSP00000322323.5:n.1073-67C>T
ENST00000515795.1:n.730-67C>T
NM_020223.3:c.1073-67C>T	NP_064608.2:n.1073-67C>T
XR_242097.3:n.1220-67C>T
XM_017012450.1:c.1334-67C>T	XP_016867939.1:n.1334-67C>T
XM_017012451.1:c.1331-67C>T	XP_016867940.1:n.1331-67C>T
XM_017012455.2:c.371-67C>T	XP_016867944.1:n.371-67C>T
NM_020223.4:c.1073-67C>T MANE Select	NP_064608.2:n.1073-67C>T