Canonical Allele Identifier: CA7168979

Gene: FANCM

Linked Data

• ClinVar Variation Id: 945326
• ClinVar RCV Id: RCV001215944
• dbSNP Id: rs150574630
• ExAC: 14:45623980 C / T
• gnomAD v2: 14-45623980-C-T
• gnomAD v3: 14-45154777-C-T
• gnomAD v4: 14-45154777-C-T
• MyVariant Identifiers: chr14:g.45623980C>T (hg19) ; chr14:g.45154777C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.45154777C>T , CM000676.2:g.45154777C>T	GRCh38
NC_000014.8:g.45623980C>T , CM000676.1:g.45623980C>T	GRCh37
NC_000014.7:g.44693730C>T	NCBI36
NG_007417.1:g.23845C>T , LRG_502:g.23845C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000556036.6:c.1264C>T	ENSP00000450596.1:p.Arg422Cys
ENST00000556250.6:c.1264C>T	ENSP00000452033.2:p.Arg422Cys
ENST00000696641.1:c.1105C>T	ENSP00000512774.1:p.Arg369Cys
ENST00000696642.1:c.*75C>T	ENSP00000512775.1:n.*75C>T
ENST00000696643.1:c.1264C>T	ENSP00000512776.1:p.Arg422Cys
ENST00000696646.1:c.*75C>T	ENSP00000512777.1:n.*75C>T
ENST00000696647.1:c.1264C>T	ENSP00000512778.1:p.Arg422Cys
ENST00000696648.1:c.1264C>T	ENSP00000512779.1:p.Arg422Cys
ENST00000696649.1:c.1264C>T	ENSP00000512780.1:p.Arg422Cys
ENST00000696650.1:n.1212C>T
ENST00000696657.1:c.*482C>T	ENSP00000512784.1:n.*482C>T
ENST00000696658.1:n.1814C>T
ENST00000696662.1:c.1186C>T	ENSP00000512788.1:p.Arg396Cys
ENST00000696663.1:c.81C>T
ENST00000696664.1:c.81C>T
ENST00000696675.1:c.1264C>T	ENSP00000512799.1:p.Arg422Cys
ENST00000696680.1:c.1132C>T	ENSP00000512803.1:p.Arg378Cys
ENST00000696681.1:c.*75C>T	ENSP00000512804.1:n.*75C>T
ENST00000696682.1:c.1264C>T	ENSP00000512805.1:p.Arg422Cys
ENST00000696683.1:c.81C>T
ENST00000696684.1:c.81C>T
ENST00000696685.1:c.81C>T
ENST00000267430.10:c.1264C>T MANE Select	ENSP00000267430.5:p.Arg422Cys
ENST00000267430.9:c.1264C>T	ENSP00000267430.5:p.Arg422Cys
ENST00000542564.6:c.1186C>T	ENSP00000442493.2:p.Arg396Cys
ENST00000556036.5:c.1264C>T	ENSP00000450596.1:p.Arg422Cys
ENST00000556250.5:c.19C>T	ENSP00000452033.1:p.Arg7Cys
NM_001308133.1:c.1186C>T	NP_001295062.1:p.Arg396Cys
NM_001308134.1:c.1264C>T	NP_001295063.1:p.Arg422Cys
NM_020937.2:c.1264C>T , LRG_502t1:c.1264C>T	NP_065988.1:p.Arg422Cys
NM_020937.3:c.1264C>T	NP_065988.1:p.Arg422Cys
XM_011537034.1:c.1264C>T	XP_011535336.1:p.Arg422Cys
XM_011537035.1:c.1186C>T	XP_011535337.1:p.Arg396Cys
XM_011537036.1:c.1264C>T	XP_011535338.1:p.Arg422Cys
XM_011537034.2:c.1264C>T	XP_011535336.1:p.Arg422Cys
XM_011537035.3:c.1186C>T	XP_011535337.1:p.Arg396Cys
XM_017021523.1:c.1264C>T	XP_016877012.1:p.Arg422Cys
XM_017021524.2:c.301C>T	XP_016877013.1:p.Arg101Cys
XM_017021525.2:c.79C>T	XP_016877014.1:p.Arg27Cys
XM_017021526.2:c.79C>T	XP_016877015.1:p.Arg27Cys
XM_017021527.1:c.79C>T	XP_016877016.1:p.Arg27Cys
XR_001750470.1:n.1356C>T
XR_001750471.2:n.1356C>T
XR_001750472.1:n.1356C>T
NM_020937.4:c.1264C>T MANE Select	NP_065988.1:p.Arg422Cys
NM_001308133.2:c.1186C>T	NP_001295062.1:p.Arg396Cys
NM_001308134.2:c.1264C>T	NP_001295063.1:p.Arg422Cys