Canonical Allele Identifier: CA389608306

Gene: FANCM

Linked Data

• MyVariant Identifiers: chr14:g.45654529T>C (hg19) ; chr14:g.45185326T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.45185326T>C , CM000676.2:g.45185326T>C	GRCh38
NC_000014.8:g.45654529T>C , CM000676.1:g.45654529T>C	GRCh37
NC_000014.7:g.44724279T>C	NCBI36
NG_007417.1:g.54394T>C , LRG_502:g.54394T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000554809.6:c.2837T>C	ENSP00000450632.2:p.Leu946Ser
ENST00000555484.2:c.403T>C
ENST00000556250.6:c.4418T>C	ENSP00000452033.2:p.Leu1473Ser
ENST00000557110.2:c.403T>C
ENST00000696642.1:c.*3436T>C	ENSP00000512775.1:n.*3436T>C
ENST00000696644.1:n.361T>C
ENST00000696645.1:n.515T>C
ENST00000696647.1:c.4625T>C	ENSP00000512778.1:p.Leu1542Ser
ENST00000696648.1:c.*2650T>C	ENSP00000512779.1:n.*2650T>C
ENST00000696649.1:c.4469T>C	ENSP00000512780.1:p.Leu1490Ser
ENST00000696650.1:n.4573T>C
ENST00000696659.1:c.2623T>C
ENST00000696663.1:c.3556T>C
ENST00000696664.1:c.3457T>C
ENST00000696665.1:c.403T>C
ENST00000696675.1:c.*381T>C	ENSP00000512799.1:n.*381T>C
ENST00000696683.1:c.3442T>C
ENST00000696684.1:c.3442T>C
ENST00000696685.1:c.3442T>C
ENST00000696686.1:n.1362T>C
ENST00000267430.10:c.4625T>C MANE Select	ENSP00000267430.5:p.Leu1542Ser
ENST00000267430.9:c.4625T>C	ENSP00000267430.5:p.Leu1542Ser
ENST00000542564.6:c.4547T>C	ENSP00000442493.2:p.Leu1516Ser
ENST00000554809.5:c.1422T>C
ENST00000555013.1:n.458T>C
ENST00000556250.5:c.3173T>C	ENSP00000452033.1:p.Leu1058Ser
NM_001308133.1:c.4547T>C	NP_001295062.1:p.Leu1516Ser
NM_020937.2:c.4625T>C , LRG_502t1:c.4625T>C	NP_065988.1:p.Leu1542Ser
NM_020937.3:c.4625T>C	NP_065988.1:p.Leu1542Ser
XM_011537034.1:c.4640T>C	XP_011535336.1:p.Leu1547Ser
XM_011537035.1:c.4562T>C	XP_011535337.1:p.Leu1521Ser
XM_011537036.1:c.4640T>C	XP_011535338.1:p.Leu1547Ser
XM_011537037.1:c.2654T>C	XP_011535339.1:p.Leu885Ser
XM_011537034.2:c.4640T>C	XP_011535336.1:p.Leu1547Ser
XM_011537035.3:c.4562T>C	XP_011535337.1:p.Leu1521Ser
XM_011537037.3:c.2654T>C	XP_011535339.1:p.Leu885Ser
XM_017021523.1:c.4640T>C	XP_016877012.1:p.Leu1547Ser
XM_017021524.2:c.3677T>C	XP_016877013.1:p.Leu1226Ser
XM_017021525.2:c.3455T>C	XP_016877014.1:p.Leu1152Ser
XM_017021526.2:c.3455T>C	XP_016877015.1:p.Leu1152Ser
XM_017021527.1:c.3440T>C	XP_016877016.1:p.Leu1147Ser
XR_001750470.1:n.4732T>C
XR_001750471.2:n.4717T>C
XR_001750472.1:n.4769T>C
NM_020937.4:c.4625T>C MANE Select	NP_065988.1:p.Leu1542Ser
NM_001308133.2:c.4547T>C	NP_001295062.1:p.Leu1516Ser