Canonical Allele Identifier: CA389608299

Gene: FANCM

Linked Data

• MyVariant Identifiers: chr14:g.45654525T>C (hg19) ; chr14:g.45185322T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.45185322T>C , CM000676.2:g.45185322T>C	GRCh38
NC_000014.8:g.45654525T>C , CM000676.1:g.45654525T>C	GRCh37
NC_000014.7:g.44724275T>C	NCBI36
NG_007417.1:g.54390T>C , LRG_502:g.54390T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000554809.6:c.2833T>C	ENSP00000450632.2:p.Ser945Pro
ENST00000555484.2:c.399T>C
ENST00000556250.6:c.4414T>C	ENSP00000452033.2:p.Ser1472Pro
ENST00000557110.2:c.399T>C
ENST00000696642.1:c.*3432T>C	ENSP00000512775.1:n.*3432T>C
ENST00000696644.1:n.357T>C
ENST00000696645.1:n.511T>C
ENST00000696647.1:c.4621T>C	ENSP00000512778.1:p.Ser1541Pro
ENST00000696648.1:c.*2646T>C	ENSP00000512779.1:n.*2646T>C
ENST00000696649.1:c.4465T>C	ENSP00000512780.1:p.Ser1489Pro
ENST00000696650.1:n.4569T>C
ENST00000696659.1:c.2619T>C
ENST00000696663.1:c.3552T>C
ENST00000696664.1:c.3453T>C
ENST00000696665.1:c.399T>C
ENST00000696675.1:c.*377T>C	ENSP00000512799.1:n.*377T>C
ENST00000696683.1:c.3438T>C
ENST00000696684.1:c.3438T>C
ENST00000696685.1:c.3438T>C
ENST00000696686.1:n.1358T>C
ENST00000267430.10:c.4621T>C MANE Select	ENSP00000267430.5:p.Ser1541Pro
ENST00000267430.9:c.4621T>C	ENSP00000267430.5:p.Ser1541Pro
ENST00000542564.6:c.4543T>C	ENSP00000442493.2:p.Ser1515Pro
ENST00000554809.5:c.1418T>C
ENST00000555013.1:n.454T>C
ENST00000556250.5:c.3169T>C	ENSP00000452033.1:p.Ser1057Pro
NM_001308133.1:c.4543T>C	NP_001295062.1:p.Ser1515Pro
NM_020937.2:c.4621T>C , LRG_502t1:c.4621T>C	NP_065988.1:p.Ser1541Pro
NM_020937.3:c.4621T>C	NP_065988.1:p.Ser1541Pro
XM_011537034.1:c.4636T>C	XP_011535336.1:p.Ser1546Pro
XM_011537035.1:c.4558T>C	XP_011535337.1:p.Ser1520Pro
XM_011537036.1:c.4636T>C	XP_011535338.1:p.Ser1546Pro
XM_011537037.1:c.2650T>C	XP_011535339.1:p.Ser884Pro
XM_011537034.2:c.4636T>C	XP_011535336.1:p.Ser1546Pro
XM_011537035.3:c.4558T>C	XP_011535337.1:p.Ser1520Pro
XM_011537037.3:c.2650T>C	XP_011535339.1:p.Ser884Pro
XM_017021523.1:c.4636T>C	XP_016877012.1:p.Ser1546Pro
XM_017021524.2:c.3673T>C	XP_016877013.1:p.Ser1225Pro
XM_017021525.2:c.3451T>C	XP_016877014.1:p.Ser1151Pro
XM_017021526.2:c.3451T>C	XP_016877015.1:p.Ser1151Pro
XM_017021527.1:c.3436T>C	XP_016877016.1:p.Ser1146Pro
XR_001750470.1:n.4728T>C
XR_001750471.2:n.4713T>C
XR_001750472.1:n.4765T>C
NM_020937.4:c.4621T>C MANE Select	NP_065988.1:p.Ser1541Pro
NM_001308133.2:c.4543T>C	NP_001295062.1:p.Ser1515Pro