Canonical Allele Identifier: CA389608293

Gene: FANCM

Linked Data

• gnomAD v4: 14-45185319-T-C
• MyVariant Identifiers: chr14:g.45654522T>C (hg19) ; chr14:g.45185319T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.45185319T>C , CM000676.2:g.45185319T>C	GRCh38
NC_000014.8:g.45654522T>C , CM000676.1:g.45654522T>C	GRCh37
NC_000014.7:g.44724272T>C	NCBI36
NG_007417.1:g.54387T>C , LRG_502:g.54387T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000554809.6:c.2830T>C	ENSP00000450632.2:p.Ser944Pro
ENST00000555484.2:c.396T>C
ENST00000556250.6:c.4411T>C	ENSP00000452033.2:p.Ser1471Pro
ENST00000557110.2:c.396T>C
ENST00000696642.1:c.*3429T>C	ENSP00000512775.1:n.*3429T>C
ENST00000696644.1:n.354T>C
ENST00000696645.1:n.508T>C
ENST00000696647.1:c.4618T>C	ENSP00000512778.1:p.Ser1540Pro
ENST00000696648.1:c.*2643T>C	ENSP00000512779.1:n.*2643T>C
ENST00000696649.1:c.4462T>C	ENSP00000512780.1:p.Ser1488Pro
ENST00000696650.1:n.4566T>C
ENST00000696659.1:c.2616T>C
ENST00000696663.1:c.3549T>C
ENST00000696664.1:c.3450T>C
ENST00000696665.1:c.396T>C
ENST00000696675.1:c.*374T>C	ENSP00000512799.1:n.*374T>C
ENST00000696683.1:c.3435T>C
ENST00000696684.1:c.3435T>C
ENST00000696685.1:c.3435T>C
ENST00000696686.1:n.1355T>C
ENST00000267430.10:c.4618T>C MANE Select	ENSP00000267430.5:p.Ser1540Pro
ENST00000267430.9:c.4618T>C	ENSP00000267430.5:p.Ser1540Pro
ENST00000542564.6:c.4540T>C	ENSP00000442493.2:p.Ser1514Pro
ENST00000554809.5:c.1415T>C
ENST00000555013.1:n.451T>C
ENST00000556250.5:c.3166T>C	ENSP00000452033.1:p.Ser1056Pro
NM_001308133.1:c.4540T>C	NP_001295062.1:p.Ser1514Pro
NM_020937.2:c.4618T>C , LRG_502t1:c.4618T>C	NP_065988.1:p.Ser1540Pro
NM_020937.3:c.4618T>C	NP_065988.1:p.Ser1540Pro
XM_011537034.1:c.4633T>C	XP_011535336.1:p.Ser1545Pro
XM_011537035.1:c.4555T>C	XP_011535337.1:p.Ser1519Pro
XM_011537036.1:c.4633T>C	XP_011535338.1:p.Ser1545Pro
XM_011537037.1:c.2647T>C	XP_011535339.1:p.Ser883Pro
XM_011537034.2:c.4633T>C	XP_011535336.1:p.Ser1545Pro
XM_011537035.3:c.4555T>C	XP_011535337.1:p.Ser1519Pro
XM_011537037.3:c.2647T>C	XP_011535339.1:p.Ser883Pro
XM_017021523.1:c.4633T>C	XP_016877012.1:p.Ser1545Pro
XM_017021524.2:c.3670T>C	XP_016877013.1:p.Ser1224Pro
XM_017021525.2:c.3448T>C	XP_016877014.1:p.Ser1150Pro
XM_017021526.2:c.3448T>C	XP_016877015.1:p.Ser1150Pro
XM_017021527.1:c.3433T>C	XP_016877016.1:p.Ser1145Pro
XR_001750470.1:n.4725T>C
XR_001750471.2:n.4710T>C
XR_001750472.1:n.4762T>C
NM_020937.4:c.4618T>C MANE Select	NP_065988.1:p.Ser1540Pro
NM_001308133.2:c.4540T>C	NP_001295062.1:p.Ser1514Pro