Canonical Allele Identifier: CA389608264

Gene: FANCM

Linked Data

• MyVariant Identifiers: chr14:g.45654510A>C (hg19) ; chr14:g.45185307A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.45185307A>C , CM000676.2:g.45185307A>C	GRCh38
NC_000014.8:g.45654510A>C , CM000676.1:g.45654510A>C	GRCh37
NC_000014.7:g.44724260A>C	NCBI36
NG_007417.1:g.54375A>C , LRG_502:g.54375A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000554809.6:c.2818A>C	ENSP00000450632.2:p.Asn940His
ENST00000555484.2:c.384A>C
ENST00000556250.6:c.4399A>C	ENSP00000452033.2:p.Asn1467His
ENST00000557110.2:c.384A>C
ENST00000696642.1:c.*3417A>C	ENSP00000512775.1:n.*3417A>C
ENST00000696644.1:n.342A>C
ENST00000696645.1:n.496A>C
ENST00000696647.1:c.4606A>C	ENSP00000512778.1:p.Asn1536His
ENST00000696648.1:c.*2631A>C	ENSP00000512779.1:n.*2631A>C
ENST00000696649.1:c.4450A>C	ENSP00000512780.1:p.Asn1484His
ENST00000696650.1:n.4554A>C
ENST00000696659.1:c.2604A>C
ENST00000696663.1:c.3537A>C
ENST00000696664.1:c.3438A>C
ENST00000696665.1:c.384A>C
ENST00000696675.1:c.*362A>C	ENSP00000512799.1:n.*362A>C
ENST00000696683.1:c.3423A>C
ENST00000696684.1:c.3423A>C
ENST00000696685.1:c.3423A>C
ENST00000696686.1:n.1343A>C
ENST00000267430.10:c.4606A>C MANE Select	ENSP00000267430.5:p.Asn1536His
ENST00000267430.9:c.4606A>C	ENSP00000267430.5:p.Asn1536His
ENST00000542564.6:c.4528A>C	ENSP00000442493.2:p.Asn1510His
ENST00000554809.5:c.1403A>C
ENST00000555013.1:n.439A>C
ENST00000556250.5:c.3154A>C	ENSP00000452033.1:p.Asn1052His
NM_001308133.1:c.4528A>C	NP_001295062.1:p.Asn1510His
NM_020937.2:c.4606A>C , LRG_502t1:c.4606A>C	NP_065988.1:p.Asn1536His
NM_020937.3:c.4606A>C	NP_065988.1:p.Asn1536His
XM_011537034.1:c.4621A>C	XP_011535336.1:p.Asn1541His
XM_011537035.1:c.4543A>C	XP_011535337.1:p.Asn1515His
XM_011537036.1:c.4621A>C	XP_011535338.1:p.Asn1541His
XM_011537037.1:c.2635A>C	XP_011535339.1:p.Asn879His
XM_011537034.2:c.4621A>C	XP_011535336.1:p.Asn1541His
XM_011537035.3:c.4543A>C	XP_011535337.1:p.Asn1515His
XM_011537037.3:c.2635A>C	XP_011535339.1:p.Asn879His
XM_017021523.1:c.4621A>C	XP_016877012.1:p.Asn1541His
XM_017021524.2:c.3658A>C	XP_016877013.1:p.Asn1220His
XM_017021525.2:c.3436A>C	XP_016877014.1:p.Asn1146His
XM_017021526.2:c.3436A>C	XP_016877015.1:p.Asn1146His
XM_017021527.1:c.3421A>C	XP_016877016.1:p.Asn1141His
XR_001750470.1:n.4713A>C
XR_001750471.2:n.4698A>C
XR_001750472.1:n.4750A>C
NM_020937.4:c.4606A>C MANE Select	NP_065988.1:p.Asn1536His
NM_001308133.2:c.4528A>C	NP_001295062.1:p.Asn1510His