Canonical Allele Identifier: CA389608135

Gene: FANCM

Linked Data

• MyVariant Identifiers: chr14:g.45654450G>T (hg19) ; chr14:g.45185247G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.45185247G>T , CM000676.2:g.45185247G>T	GRCh38
NC_000014.8:g.45654450G>T , CM000676.1:g.45654450G>T	GRCh37
NC_000014.7:g.44724200G>T	NCBI36
NG_007417.1:g.54315G>T , LRG_502:g.54315G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000554809.6:c.2758G>T	ENSP00000450632.2:p.Ala920Ser
ENST00000555484.2:c.324G>T
ENST00000556250.6:c.4339G>T	ENSP00000452033.2:p.Ala1447Ser
ENST00000557110.2:c.324G>T
ENST00000696642.1:c.*3357G>T	ENSP00000512775.1:n.*3357G>T
ENST00000696644.1:n.282G>T
ENST00000696645.1:n.436G>T
ENST00000696647.1:c.4546G>T	ENSP00000512778.1:p.Ala1516Ser
ENST00000696648.1:c.*2571G>T	ENSP00000512779.1:n.*2571G>T
ENST00000696649.1:c.4390G>T	ENSP00000512780.1:p.Ala1464Ser
ENST00000696650.1:n.4494G>T
ENST00000696659.1:c.2544G>T
ENST00000696663.1:c.3477G>T
ENST00000696664.1:c.3378G>T
ENST00000696665.1:c.324G>T
ENST00000696675.1:c.*302G>T	ENSP00000512799.1:n.*302G>T
ENST00000696683.1:c.3363G>T
ENST00000696684.1:c.3363G>T
ENST00000696685.1:c.3363G>T
ENST00000696686.1:n.1283G>T
ENST00000267430.10:c.4546G>T MANE Select	ENSP00000267430.5:p.Ala1516Ser
ENST00000267430.9:c.4546G>T	ENSP00000267430.5:p.Ala1516Ser
ENST00000542564.6:c.4468G>T	ENSP00000442493.2:p.Ala1490Ser
ENST00000554809.5:c.1343G>T
ENST00000555013.1:n.379G>T
ENST00000556250.5:c.3094G>T	ENSP00000452033.1:p.Ala1032Ser
NM_001308133.1:c.4468G>T	NP_001295062.1:p.Ala1490Ser
NM_020937.2:c.4546G>T , LRG_502t1:c.4546G>T	NP_065988.1:p.Ala1516Ser
NM_020937.3:c.4546G>T	NP_065988.1:p.Ala1516Ser
XM_011537034.1:c.4561G>T	XP_011535336.1:p.Ala1521Ser
XM_011537035.1:c.4483G>T	XP_011535337.1:p.Ala1495Ser
XM_011537036.1:c.4561G>T	XP_011535338.1:p.Ala1521Ser
XM_011537037.1:c.2575G>T	XP_011535339.1:p.Ala859Ser
XM_011537034.2:c.4561G>T	XP_011535336.1:p.Ala1521Ser
XM_011537035.3:c.4483G>T	XP_011535337.1:p.Ala1495Ser
XM_011537037.3:c.2575G>T	XP_011535339.1:p.Ala859Ser
XM_017021523.1:c.4561G>T	XP_016877012.1:p.Ala1521Ser
XM_017021524.2:c.3598G>T	XP_016877013.1:p.Ala1200Ser
XM_017021525.2:c.3376G>T	XP_016877014.1:p.Ala1126Ser
XM_017021526.2:c.3376G>T	XP_016877015.1:p.Ala1126Ser
XM_017021527.1:c.3361G>T	XP_016877016.1:p.Ala1121Ser
XR_001750470.1:n.4653G>T
XR_001750471.2:n.4638G>T
XR_001750472.1:n.4690G>T
NM_020937.4:c.4546G>T MANE Select	NP_065988.1:p.Ala1516Ser
NM_001308133.2:c.4468G>T	NP_001295062.1:p.Ala1490Ser