Canonical Allele Identifier: CA1601597603
Community Standard Title: NM_153607.3(CREBRF):c.1370G= (p.Arg457=)
Gene: CREBRF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173108771G= , CM000667.2:g.173108771G= GRCh38
NC_000005.9:g.172535774G= , CM000667.1:g.172535774G= GRCh37
NC_000005.8:g.172468380G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_153607.3:c.1370G= MANE Select NP_705835.2:p.Arg457=
ENST00000296953.6:c.1370G= MANE Select ENSP00000296953.2:p.Arg457=
NM_153607.2:c.1370G= NP_705835.2:p.Arg457=
ENST00000520464.1:n.1647G=
XM_005265821.3:c.1346G= XP_005265878.1:p.Arg449=
XM_006714822.2:c.1370G= XP_006714885.1:p.Arg457=
XM_006714822.4:c.1370G= XP_006714885.1:p.Arg457=
XM_011534441.1:c.1370G= XP_011532743.1:p.Arg457=
XM_011534442.1:c.1346G= XP_011532744.1:p.Arg449=