Canonical Allele Identifier: CA389608174

Gene: FANCM

Linked Data

• MyVariant Identifiers: chr14:g.45654469A>C (hg19) ; chr14:g.45185266A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.45185266A>C , CM000676.2:g.45185266A>C	GRCh38
NC_000014.8:g.45654469A>C , CM000676.1:g.45654469A>C	GRCh37
NC_000014.7:g.44724219A>C	NCBI36
NG_007417.1:g.54334A>C , LRG_502:g.54334A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000554809.6:c.2777A>C	ENSP00000450632.2:p.Asp926Ala
ENST00000555484.2:c.343A>C
ENST00000556250.6:c.4358A>C	ENSP00000452033.2:p.Asp1453Ala
ENST00000557110.2:c.343A>C
ENST00000696642.1:c.*3376A>C	ENSP00000512775.1:n.*3376A>C
ENST00000696644.1:n.301A>C
ENST00000696645.1:n.455A>C
ENST00000696647.1:c.4565A>C	ENSP00000512778.1:p.Asp1522Ala
ENST00000696648.1:c.*2590A>C	ENSP00000512779.1:n.*2590A>C
ENST00000696649.1:c.4409A>C	ENSP00000512780.1:p.Asp1470Ala
ENST00000696650.1:n.4513A>C
ENST00000696659.1:c.2563A>C
ENST00000696663.1:c.3496A>C
ENST00000696664.1:c.3397A>C
ENST00000696665.1:c.343A>C
ENST00000696675.1:c.*321A>C	ENSP00000512799.1:n.*321A>C
ENST00000696683.1:c.3382A>C
ENST00000696684.1:c.3382A>C
ENST00000696685.1:c.3382A>C
ENST00000696686.1:n.1302A>C
ENST00000267430.10:c.4565A>C MANE Select	ENSP00000267430.5:p.Asp1522Ala
ENST00000267430.9:c.4565A>C	ENSP00000267430.5:p.Asp1522Ala
ENST00000542564.6:c.4487A>C	ENSP00000442493.2:p.Asp1496Ala
ENST00000554809.5:c.1362A>C
ENST00000555013.1:n.398A>C
ENST00000556250.5:c.3113A>C	ENSP00000452033.1:p.Asp1038Ala
NM_001308133.1:c.4487A>C	NP_001295062.1:p.Asp1496Ala
NM_020937.2:c.4565A>C , LRG_502t1:c.4565A>C	NP_065988.1:p.Asp1522Ala
NM_020937.3:c.4565A>C	NP_065988.1:p.Asp1522Ala
XM_011537034.1:c.4580A>C	XP_011535336.1:p.Asp1527Ala
XM_011537035.1:c.4502A>C	XP_011535337.1:p.Asp1501Ala
XM_011537036.1:c.4580A>C	XP_011535338.1:p.Asp1527Ala
XM_011537037.1:c.2594A>C	XP_011535339.1:p.Asp865Ala
XM_011537034.2:c.4580A>C	XP_011535336.1:p.Asp1527Ala
XM_011537035.3:c.4502A>C	XP_011535337.1:p.Asp1501Ala
XM_011537037.3:c.2594A>C	XP_011535339.1:p.Asp865Ala
XM_017021523.1:c.4580A>C	XP_016877012.1:p.Asp1527Ala
XM_017021524.2:c.3617A>C	XP_016877013.1:p.Asp1206Ala
XM_017021525.2:c.3395A>C	XP_016877014.1:p.Asp1132Ala
XM_017021526.2:c.3395A>C	XP_016877015.1:p.Asp1132Ala
XM_017021527.1:c.3380A>C	XP_016877016.1:p.Asp1127Ala
XR_001750470.1:n.4672A>C
XR_001750471.2:n.4657A>C
XR_001750472.1:n.4709A>C
NM_020937.4:c.4565A>C MANE Select	NP_065988.1:p.Asp1522Ala
NM_001308133.2:c.4487A>C	NP_001295062.1:p.Asp1496Ala