Canonical Allele Identifier: CA152281946
Gene: FAM20C HGNC NCBI

Linked Data

dbSNP Id: rs559029473
gnomAD v2: 7-295745-G-A
gnomAD v3: 7-255779-G-A
gnomAD v4: 7-255779-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.255779G>A , CM000669.2:g.255779G>A GRCh38
NC_000007.13:g.295745G>A , CM000669.1:g.295745G>A GRCh37
NG_033970.1:g.65415G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000313766.6:c.1073-70G>A MANE Select ENSP00000322323.5:n.1073-70G>A
ENST00000313766.5:c.1073-70G>A ENSP00000322323.5:n.1073-70G>A
ENST00000515795.1:n.730-70G>A
NM_020223.3:c.1073-70G>A NP_064608.2:n.1073-70G>A
XR_242097.3:n.1220-70G>A
XM_017012450.1:c.1334-70G>A XP_016867939.1:n.1334-70G>A
XM_017012451.1:c.1331-70G>A XP_016867940.1:n.1331-70G>A
XM_017012455.2:c.371-70G>A XP_016867944.1:n.371-70G>A
NM_020223.4:c.1073-70G>A MANE Select NP_064608.2:n.1073-70G>A