Canonical Allele Identifier: CA7169550
Community Standard Title: NM_020937.4(FANCM):c.3663T>C (p.Phe1221=)
Gene: FANCM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.45176417T>C , CM000676.2:g.45176417T>C GRCh38
NC_000014.8:g.45645620T>C , CM000676.1:g.45645620T>C GRCh37
NC_000014.7:g.44715370T>C NCBI36
NG_007417.1:g.45485T>C , LRG_502:g.45485T>C

Transcript Alleles

HGVS Amino-acid Change
NM_020937.4:c.3663T>C MANE Select NP_065988.1:p.Phe1221=
ENST00000267430.10:c.3663T>C MANE Select ENSP00000267430.5:p.Phe1221=
NM_001308133.1:c.3585T>C NP_001295062.1:p.Phe1195=
NM_001308133.2:c.3585T>C NP_001295062.1:p.Phe1195=
NM_020937.2:c.3663T>C , LRG_502t1:c.3663T>C NP_065988.1:p.Phe1221=
NM_020937.3:c.3663T>C NP_065988.1:p.Phe1221=
ENST00000267430.9:c.3663T>C ENSP00000267430.5:p.Phe1221=
ENST00000542564.6:c.3585T>C ENSP00000442493.2:p.Phe1195=
ENST00000554809.5:c.460T>C
ENST00000554809.6:c.1875T>C ENSP00000450632.2:p.Phe625=
ENST00000556250.5:c.2211T>C ENSP00000452033.1:p.Phe737=
ENST00000556250.6:c.3456T>C ENSP00000452033.2:p.Phe1152=
ENST00000696641.1:c.3504T>C ENSP00000512774.1:p.Phe1168=
ENST00000696642.1:c.*2474T>C ENSP00000512775.1:n.*2474T>C
ENST00000696646.1:c.*2474T>C ENSP00000512777.1:n.*2474T>C
ENST00000696647.1:c.3663T>C ENSP00000512778.1:p.Phe1221=
ENST00000696648.1:c.*1688T>C ENSP00000512779.1:n.*1688T>C
ENST00000696649.1:c.3507T>C ENSP00000512780.1:p.Phe1169=
ENST00000696650.1:n.3611T>C
ENST00000696659.1:c.1661T>C
ENST00000696663.1:c.2480T>C
ENST00000696664.1:c.2480T>C
ENST00000696675.1:c.3663T>C ENSP00000512799.1:p.Phe1221=
ENST00000696683.1:c.2480T>C
ENST00000696684.1:c.2480T>C
ENST00000696685.1:c.2480T>C
XM_011537034.1:c.3663T>C XP_011535336.1:p.Phe1221=
XM_011537034.2:c.3663T>C XP_011535336.1:p.Phe1221=
XM_011537035.1:c.3585T>C XP_011535337.1:p.Phe1195=
XM_011537035.3:c.3585T>C XP_011535337.1:p.Phe1195=
XM_011537036.1:c.3663T>C XP_011535338.1:p.Phe1221=
XM_011537037.1:c.1677T>C XP_011535339.1:p.Phe559=
XM_011537037.3:c.1677T>C XP_011535339.1:p.Phe559=
XM_017021523.1:c.3663T>C XP_016877012.1:p.Phe1221=
XM_017021524.2:c.2700T>C XP_016877013.1:p.Phe900=
XM_017021525.2:c.2478T>C XP_016877014.1:p.Phe826=
XM_017021526.2:c.2478T>C XP_016877015.1:p.Phe826=
XM_017021527.1:c.2478T>C XP_016877016.1:p.Phe826=
XR_001750470.1:n.3755T>C
XR_001750471.2:n.3755T>C
XR_001750472.1:n.3755T>C