Canonical Allele Identifier: CA389586052

Gene: FANCM

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.45196361C>T , CM000676.2:g.45196361C>T	GRCh38
NC_000014.8:g.45665564C>T , CM000676.1:g.45665564C>T	GRCh37
NC_000014.7:g.44735314C>T	NCBI36
NG_007417.1:g.65429C>T , LRG_502:g.65429C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_020937.4:c.5530C>T MANE Select	NP_065988.1:p.Gln1844Ter
ENST00000267430.10:c.5530C>T MANE Select	ENSP00000267430.5:p.Gln1844Ter
NM_001308133.1:c.5452C>T	NP_001295062.1:p.Gln1818Ter
NM_001308133.2:c.5452C>T	NP_001295062.1:p.Gln1818Ter
NM_020937.2:c.5530C>T , LRG_502t1:c.5530C>T	NP_065988.1:p.Gln1844Ter
NM_020937.3:c.5530C>T	NP_065988.1:p.Gln1844Ter
ENST00000267430.9:c.5530C>T	ENSP00000267430.5:p.Gln1844Ter
ENST00000542564.6:c.5452C>T	ENSP00000442493.2:p.Gln1818Ter
ENST00000554809.5:c.2432C>T
ENST00000554809.6:c.3847C>T	ENSP00000450632.2:p.Gln1283Ter
ENST00000555484.2:c.1308C>T
ENST00000556250.5:c.4078C>T	ENSP00000452033.1:p.Gln1360Ter
ENST00000556250.6:c.5323C>T	ENSP00000452033.2:p.Gln1775Ter
ENST00000557110.1:c.190C>T	ENSP00000451846.1:p.Gln64Ter
ENST00000557110.2:c.1308C>T
ENST00000696645.1:n.1420C>T
ENST00000696647.1:c.5341-2283C>T	ENSP00000512778.1:n.5341-2283C>T
ENST00000696648.1:c.*3555C>T	ENSP00000512779.1:n.*3555C>T
ENST00000696649.1:c.5374C>T	ENSP00000512780.1:p.Gln1792Ter
ENST00000696651.1:n.1970C>T
ENST00000696659.1:c.3339-2283C>T
ENST00000696663.1:c.4461C>T
ENST00000696664.1:c.4362C>T
ENST00000696665.1:c.1308C>T
ENST00000696675.1:c.*1286C>T	ENSP00000512799.1:n.*1286C>T
ENST00000696683.1:c.4158C>T
ENST00000696684.1:c.4158-3509C>T
ENST00000696685.1:c.4347C>T
ENST00000696686.1:n.2267C>T
XM_011537034.1:c.5545C>T	XP_011535336.1:p.Gln1849Ter
XM_011537034.2:c.5545C>T	XP_011535336.1:p.Gln1849Ter
XM_011537035.1:c.5467C>T	XP_011535337.1:p.Gln1823Ter
XM_011537035.3:c.5467C>T	XP_011535337.1:p.Gln1823Ter
XM_011537036.1:c.5356-2283C>T	XP_011535338.1:n.5356-2283C>T
XM_011537037.1:c.3559C>T	XP_011535339.1:p.Gln1187Ter
XM_011537037.3:c.3559C>T	XP_011535339.1:p.Gln1187Ter
XM_017021523.1:c.5356-3509C>T	XP_016877012.1:n.5356-3509C>T
XM_017021524.2:c.4582C>T	XP_016877013.1:p.Gln1528Ter
XM_017021525.2:c.4360C>T	XP_016877014.1:p.Gln1454Ter
XM_017021526.2:c.4360C>T	XP_016877015.1:p.Gln1454Ter
XM_017021527.1:c.4345C>T	XP_016877016.1:p.Gln1449Ter
XR_001750470.1:n.5448-2283C>T
XR_001750471.2:n.5433-2283C>T