Canonical Allele Identifier: CA389608132

Gene: FANCM

Linked Data

• dbSNP Id: rs1321105063
• gnomAD v3: 14-45185247-G-A
• gnomAD v4: 14-45185247-G-A
• MyVariant Identifiers: chr14:g.45654450G>A (hg19) ; chr14:g.45185247G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000554809.6:c.2758G>A	ENSP00000450632.2:p.Ala920Thr
ENST00000555484.2:c.324G>A
ENST00000556250.6:c.4339G>A	ENSP00000452033.2:p.Ala1447Thr
ENST00000557110.2:c.324G>A
ENST00000696642.1:c.*3357G>A	ENSP00000512775.1:n.*3357G>A
ENST00000696644.1:n.282G>A
ENST00000696645.1:n.436G>A
ENST00000696647.1:c.4546G>A	ENSP00000512778.1:p.Ala1516Thr
ENST00000696648.1:c.*2571G>A	ENSP00000512779.1:n.*2571G>A
ENST00000696649.1:c.4390G>A	ENSP00000512780.1:p.Ala1464Thr
ENST00000696650.1:n.4494G>A
ENST00000696659.1:c.2544G>A
ENST00000696663.1:c.3477G>A
ENST00000696664.1:c.3378G>A
ENST00000696665.1:c.324G>A
ENST00000696675.1:c.*302G>A	ENSP00000512799.1:n.*302G>A
ENST00000696683.1:c.3363G>A
ENST00000696684.1:c.3363G>A
ENST00000696685.1:c.3363G>A
ENST00000696686.1:n.1283G>A
ENST00000267430.10:c.4546G>A MANE Select	ENSP00000267430.5:p.Ala1516Thr
ENST00000267430.9:c.4546G>A	ENSP00000267430.5:p.Ala1516Thr
ENST00000542564.6:c.4468G>A	ENSP00000442493.2:p.Ala1490Thr
ENST00000554809.5:c.1343G>A
ENST00000555013.1:n.379G>A
ENST00000556250.5:c.3094G>A	ENSP00000452033.1:p.Ala1032Thr
NM_001308133.1:c.4468G>A	NP_001295062.1:p.Ala1490Thr
NM_020937.2:c.4546G>A , LRG_502t1:c.4546G>A	NP_065988.1:p.Ala1516Thr
NM_020937.3:c.4546G>A	NP_065988.1:p.Ala1516Thr
XM_011537034.1:c.4561G>A	XP_011535336.1:p.Ala1521Thr
XM_011537035.1:c.4483G>A	XP_011535337.1:p.Ala1495Thr
XM_011537036.1:c.4561G>A	XP_011535338.1:p.Ala1521Thr
XM_011537037.1:c.2575G>A	XP_011535339.1:p.Ala859Thr
XM_011537034.2:c.4561G>A	XP_011535336.1:p.Ala1521Thr
XM_011537035.3:c.4483G>A	XP_011535337.1:p.Ala1495Thr
XM_011537037.3:c.2575G>A	XP_011535339.1:p.Ala859Thr
XM_017021523.1:c.4561G>A	XP_016877012.1:p.Ala1521Thr
XM_017021524.2:c.3598G>A	XP_016877013.1:p.Ala1200Thr
XM_017021525.2:c.3376G>A	XP_016877014.1:p.Ala1126Thr
XM_017021526.2:c.3376G>A	XP_016877015.1:p.Ala1126Thr
XM_017021527.1:c.3361G>A	XP_016877016.1:p.Ala1121Thr
XR_001750470.1:n.4653G>A
XR_001750471.2:n.4638G>A
XR_001750472.1:n.4690G>A
NM_020937.4:c.4546G>A MANE Select	NP_065988.1:p.Ala1516Thr
NM_001308133.2:c.4468G>A	NP_001295062.1:p.Ala1490Thr