Canonical Allele Identifier: CA7169176
Community Standard Title: NM_020937.4(FANCM):c.1879C>T (p.Arg627Ter)
Gene: FANCM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.45167040C>T , CM000676.2:g.45167040C>T GRCh38
NC_000014.8:g.45636243C>T , CM000676.1:g.45636243C>T GRCh37
NC_000014.7:g.44705993C>T NCBI36
NG_007417.1:g.36108C>T , LRG_502:g.36108C>T

Transcript Alleles

HGVS Amino-acid Change
NM_020937.4:c.1879C>T MANE Select NP_065988.1:p.Arg627Ter
ENST00000267430.10:c.1879C>T MANE Select ENSP00000267430.5:p.Arg627Ter
NM_001308133.1:c.1801C>T NP_001295062.1:p.Arg601Ter
NM_001308133.2:c.1801C>T NP_001295062.1:p.Arg601Ter
NM_001308134.1:c.1879C>T NP_001295063.1:p.Arg627Ter
NM_001308134.2:c.1879C>T NP_001295063.1:p.Arg627Ter
NM_020937.2:c.1879C>T , LRG_502t1:c.1879C>T NP_065988.1:p.Arg627Ter
NM_020937.3:c.1879C>T NP_065988.1:p.Arg627Ter
ENST00000267430.9:c.1879C>T ENSP00000267430.5:p.Arg627Ter
ENST00000542564.6:c.1801C>T ENSP00000442493.2:p.Arg601Ter
ENST00000554809.6:c.91C>T ENSP00000450632.2:p.Arg31Ter
ENST00000556036.5:c.1879C>T ENSP00000450596.1:p.Arg627Ter
ENST00000556036.6:c.1879C>T ENSP00000450596.1:p.Arg627Ter
ENST00000556250.5:c.427C>T ENSP00000452033.1:p.Arg143Ter
ENST00000556250.6:c.1672C>T ENSP00000452033.2:p.Arg558Ter
ENST00000696641.1:c.1720C>T ENSP00000512774.1:p.Arg574Ter
ENST00000696642.1:c.*690C>T ENSP00000512775.1:n.*690C>T
ENST00000696646.1:c.*690C>T ENSP00000512777.1:n.*690C>T
ENST00000696647.1:c.1879C>T ENSP00000512778.1:p.Arg627Ter
ENST00000696648.1:c.1879C>T ENSP00000512779.1:p.Arg627Ter
ENST00000696649.1:c.1879C>T ENSP00000512780.1:p.Arg627Ter
ENST00000696650.1:n.1827C>T
ENST00000696658.1:n.2429C>T
ENST00000696662.1:c.1801C>T ENSP00000512788.1:p.Arg601Ter
ENST00000696663.1:c.696C>T
ENST00000696664.1:c.696C>T
ENST00000696675.1:c.1879C>T ENSP00000512799.1:p.Arg627Ter
ENST00000696683.1:c.696C>T
ENST00000696684.1:c.696C>T
ENST00000696685.1:c.696C>T
XM_011537034.1:c.1879C>T XP_011535336.1:p.Arg627Ter
XM_011537034.2:c.1879C>T XP_011535336.1:p.Arg627Ter
XM_011537035.1:c.1801C>T XP_011535337.1:p.Arg601Ter
XM_011537035.3:c.1801C>T XP_011535337.1:p.Arg601Ter
XM_011537036.1:c.1879C>T XP_011535338.1:p.Arg627Ter
XM_017021523.1:c.1879C>T XP_016877012.1:p.Arg627Ter
XM_017021524.2:c.916C>T XP_016877013.1:p.Arg306Ter
XM_017021525.2:c.694C>T XP_016877014.1:p.Arg232Ter
XM_017021526.2:c.694C>T XP_016877015.1:p.Arg232Ter
XM_017021527.1:c.694C>T XP_016877016.1:p.Arg232Ter
XR_001750470.1:n.1971C>T
XR_001750471.2:n.1971C>T
XR_001750472.1:n.1971C>T