Canonical Allele Identifier: CA3563150
Gene: CREBRF HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.173108771G>A
GRCh37 chr5:g.172535774G>A
Revel Score:
ENST00000296953 (MANE Select) 0.288
ENST00000540014 0.288
ENST00000538538 0.288
ENST00000393776 0.288
gnomAD v2:
5:172535774 G / A
gnomAD v3:
5:173108771 G / A
gnomAD v4:
chr5-173108771-G-A
Joint Max Group AF 0.00018035 (AMR)
Genomes Max Group AF 0.00070811 (AMR)
Exomes Max Group AF 0.00002004 (EAS)
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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
Search 100 bp 5'
Search 100 bp 3'