Canonical Allele Identifier: CA3563150
Gene: CREBRF HGNC NCBI

Linked Data

dbSNP Id: rs373863828

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000296953.6:c.1370G>A MANE Select ENSP00000296953.2:p.Arg457Gln
ENST00000520464.1:n.1647G>A
NM_153607.2:c.1370G>A NP_705835.2:p.Arg457Gln
XM_005265821.3:c.1346G>A XP_005265878.1:p.Arg449Gln
XM_006714822.2:c.1370G>A XP_006714885.1:p.Arg457Gln
XM_011534441.1:c.1370G>A XP_011532743.1:p.Arg457Gln
XM_011534442.1:c.1346G>A XP_011532744.1:p.Arg449Gln
XM_006714822.4:c.1370G>A XP_006714885.1:p.Arg457Gln
NM_153607.3:c.1370G>A MANE Select NP_705835.2:p.Arg457Gln