Canonical Allele Identifier: CA4472358
Gene: FAM71F1 HGNC NCBI

Linked Data

dbSNP Id: rs6971091

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128723233G>A , CM000669.2:g.128723233G>A GRCh38
NC_000007.13:g.128363287G>A , CM000669.1:g.128363287G>A GRCh37
NC_000007.12:g.128150523G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000315184.9:c.724G>A ENSP00000326652.4:p.Glu242Lys
ENST00000466842.1:n.292G>A ENSP00000417930.1:p.Glu98Lys
ENST00000471558.5:c.724G>A ENSP00000418672.1:p.Glu242Lys
ENST00000484425.6:c.295G>A ENSP00000418591.2:p.Glu99Lys
ENST00000485070.5:c.427G>A ENSP00000418192.1:p.Glu143Lys
ENST00000621392.4:c.427G>A ENSP00000477573.1:p.Glu143Lys
NM_001282788.1:c.724G>A NP_001269717.1:p.Glu242Lys
NM_001282789.1:c.427G>A NP_001269718.1:p.Glu143Lys
NM_032599.3:c.724G>A NP_115988.1:p.Glu242Lys
XM_017012743.2:c.724G>A XP_016868232.1:p.Glu242Lys
NM_001282788.2:c.724G>A NP_001269717.1:p.Glu242Lys
NM_001282789.2:c.427G>A NP_001269718.1:p.Glu143Lys
NM_032599.4:c.724G>A NP_115988.1:p.Glu242Lys