Canonical Allele Identifier: CA7168977
Gene: FANCM HGNC NCBI

Linked Data

ClinVar Variation Id: 864066
ClinVar RCV Id: RCV001071165
dbSNP Id: rs141729590

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.45154762G>C , CM000676.2:g.45154762G>C GRCh38
NC_000014.8:g.45623965G>C , CM000676.1:g.45623965G>C GRCh37
NC_000014.7:g.44693715G>C NCBI36
NG_007417.1:g.23830G>C , LRG_502:g.23830G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000267430.10:c.1249G>C MANE Select ENSP00000267430.5:p.Glu417Gln
ENST00000267430.9:c.1249G>C ENSP00000267430.5:p.Glu417Gln
ENST00000542564.6:c.1171G>C ENSP00000442493.2:p.Glu391Gln
ENST00000556036.5:c.1249G>C ENSP00000450596.1:p.Glu417Gln
ENST00000556250.5:n.4G>C ENSP00000452033.1:p.Glu2Gln
NM_001308133.1:c.1171G>C NP_001295062.1:p.Glu391Gln
NM_001308134.1:c.1249G>C NP_001295063.1:p.Glu417Gln
NM_020937.2:c.1249G>C , LRG_502t1:c.1249G>C NP_065988.1:p.Glu417Gln
NM_020937.3:c.1249G>C NP_065988.1:p.Glu417Gln
XM_011537034.1:c.1249G>C XP_011535336.1:p.Glu417Gln
XM_011537035.1:c.1171G>C XP_011535337.1:p.Glu391Gln
XM_011537036.1:c.1249G>C XP_011535338.1:p.Glu417Gln
XM_011537034.2:c.1249G>C XP_011535336.1:p.Glu417Gln
XM_011537035.3:c.1171G>C XP_011535337.1:p.Glu391Gln
XM_017021523.1:c.1249G>C XP_016877012.1:p.Glu417Gln
XM_017021524.2:c.286G>C XP_016877013.1:p.Glu96Gln
XM_017021525.2:c.64G>C XP_016877014.1:p.Glu22Gln
XM_017021526.2:c.64G>C XP_016877015.1:p.Glu22Gln
XM_017021527.1:c.64G>C XP_016877016.1:p.Glu22Gln
XR_001750470.1:n.1341G>C
XR_001750471.2:n.1341G>C
XR_001750472.1:n.1341G>C
NM_020937.4:c.1249G>C MANE Select NP_065988.1:p.Glu417Gln
NM_001308133.2:c.1171G>C NP_001295062.1:p.Glu391Gln
NM_001308134.2:c.1249G>C NP_001295063.1:p.Glu417Gln