Canonical Allele Identifier: CA389594818

Gene: FANCM

Linked Data

• MyVariant Identifiers: chr14:g.45636175A>T (hg19) ; chr14:g.45166972A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.45166972A>T , CM000676.2:g.45166972A>T	GRCh38
NC_000014.8:g.45636175A>T , CM000676.1:g.45636175A>T	GRCh37
NC_000014.7:g.44705925A>T	NCBI36
NG_007417.1:g.36040A>T , LRG_502:g.36040A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000554809.6:c.23A>T	ENSP00000450632.2:p.Asn8Ile
ENST00000556036.6:c.1811A>T	ENSP00000450596.1:p.Asn604Ile
ENST00000556250.6:c.1604A>T	ENSP00000452033.2:p.Asn535Ile
ENST00000696641.1:c.1652A>T	ENSP00000512774.1:p.Asn551Ile
ENST00000696642.1:c.*622A>T	ENSP00000512775.1:n.*622A>T
ENST00000696646.1:c.*622A>T	ENSP00000512777.1:n.*622A>T
ENST00000696647.1:c.1811A>T	ENSP00000512778.1:p.Asn604Ile
ENST00000696648.1:c.1811A>T	ENSP00000512779.1:p.Asn604Ile
ENST00000696649.1:c.1811A>T	ENSP00000512780.1:p.Asn604Ile
ENST00000696650.1:n.1759A>T
ENST00000696658.1:n.2361A>T
ENST00000696662.1:c.1733A>T	ENSP00000512788.1:p.Asn578Ile
ENST00000696663.1:c.628A>T
ENST00000696664.1:c.628A>T
ENST00000696675.1:c.1811A>T	ENSP00000512799.1:p.Asn604Ile
ENST00000696683.1:c.628A>T
ENST00000696684.1:c.628A>T
ENST00000696685.1:c.628A>T
ENST00000267430.10:c.1811A>T MANE Select	ENSP00000267430.5:p.Asn604Ile
ENST00000267430.9:c.1811A>T	ENSP00000267430.5:p.Asn604Ile
ENST00000542564.6:c.1733A>T	ENSP00000442493.2:p.Asn578Ile
ENST00000556036.5:c.1811A>T	ENSP00000450596.1:p.Asn604Ile
ENST00000556250.5:c.359A>T	ENSP00000452033.1:p.Asn120Ile
NM_001308133.1:c.1733A>T	NP_001295062.1:p.Asn578Ile
NM_001308134.1:c.1811A>T	NP_001295063.1:p.Asn604Ile
NM_020937.2:c.1811A>T , LRG_502t1:c.1811A>T	NP_065988.1:p.Asn604Ile
NM_020937.3:c.1811A>T	NP_065988.1:p.Asn604Ile
XM_011537034.1:c.1811A>T	XP_011535336.1:p.Asn604Ile
XM_011537035.1:c.1733A>T	XP_011535337.1:p.Asn578Ile
XM_011537036.1:c.1811A>T	XP_011535338.1:p.Asn604Ile
XM_011537034.2:c.1811A>T	XP_011535336.1:p.Asn604Ile
XM_011537035.3:c.1733A>T	XP_011535337.1:p.Asn578Ile
XM_017021523.1:c.1811A>T	XP_016877012.1:p.Asn604Ile
XM_017021524.2:c.848A>T	XP_016877013.1:p.Asn283Ile
XM_017021525.2:c.626A>T	XP_016877014.1:p.Asn209Ile
XM_017021526.2:c.626A>T	XP_016877015.1:p.Asn209Ile
XM_017021527.1:c.626A>T	XP_016877016.1:p.Asn209Ile
XR_001750470.1:n.1903A>T
XR_001750471.2:n.1903A>T
XR_001750472.1:n.1903A>T
NM_020937.4:c.1811A>T MANE Select	NP_065988.1:p.Asn604Ile
NM_001308133.2:c.1733A>T	NP_001295062.1:p.Asn578Ile
NM_001308134.2:c.1811A>T	NP_001295063.1:p.Asn604Ile