Canonical Allele Identifier: CA486138466

Gene: FANCM

Linked Data

• ClinVar Variation Id: 2143669
• ClinVar RCV Id: RCV003068000
• MyVariant Identifiers: chr14:g.45623958T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.45154755T>C , CM000676.2:g.45154755T>C	GRCh38
NC_000014.8:g.45623958T>C , CM000676.1:g.45623958T>C	GRCh37
NC_000014.7:g.44693708T>C	NCBI36
NG_007417.1:g.23823T>C , LRG_502:g.23823T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556036.6:c.1242T>C	ENSP00000450596.1:p.Asn414=
ENST00000556250.6:c.1242T>C	ENSP00000452033.2:p.Asn414=
ENST00000696641.1:c.1083T>C	ENSP00000512774.1:p.Asn361=
ENST00000696642.1:c.*53T>C	ENSP00000512775.1:n.*53T>C
ENST00000696643.1:c.1242T>C	ENSP00000512776.1:p.Asn414=
ENST00000696646.1:c.*53T>C	ENSP00000512777.1:n.*53T>C
ENST00000696647.1:c.1242T>C	ENSP00000512778.1:p.Asn414=
ENST00000696648.1:c.1242T>C	ENSP00000512779.1:p.Asn414=
ENST00000696649.1:c.1242T>C	ENSP00000512780.1:p.Asn414=
ENST00000696650.1:n.1190T>C
ENST00000696657.1:c.*460T>C	ENSP00000512784.1:n.*460T>C
ENST00000696658.1:n.1792T>C
ENST00000696662.1:c.1164T>C	ENSP00000512788.1:p.Asn388=
ENST00000696663.1:c.59T>C
ENST00000696664.1:c.59T>C
ENST00000696675.1:c.1242T>C	ENSP00000512799.1:p.Asn414=
ENST00000696680.1:c.1110T>C	ENSP00000512803.1:p.Asn370=
ENST00000696681.1:c.*53T>C	ENSP00000512804.1:n.*53T>C
ENST00000696682.1:c.1242T>C	ENSP00000512805.1:p.Asn414=
ENST00000696683.1:c.59T>C
ENST00000696684.1:c.59T>C
ENST00000696685.1:c.59T>C
ENST00000267430.10:c.1242T>C MANE Select	ENSP00000267430.5:p.Asn414=
ENST00000267430.9:c.1242T>C	ENSP00000267430.5:p.Asn414=
ENST00000542564.6:c.1164T>C	ENSP00000442493.2:p.Asn388=
ENST00000556036.5:c.1242T>C	ENSP00000450596.1:p.Asn414=
NM_001308133.1:c.1164T>C	NP_001295062.1:p.Asn388=
NM_001308134.1:c.1242T>C	NP_001295063.1:p.Asn414=
NM_020937.2:c.1242T>C , LRG_502t1:c.1242T>C	NP_065988.1:p.Asn414=
NM_020937.3:c.1242T>C	NP_065988.1:p.Asn414=
XM_011537034.1:c.1242T>C	XP_011535336.1:p.Asn414=
XM_011537035.1:c.1164T>C	XP_011535337.1:p.Asn388=
XM_011537036.1:c.1242T>C	XP_011535338.1:p.Asn414=
XM_011537034.2:c.1242T>C	XP_011535336.1:p.Asn414=
XM_011537035.3:c.1164T>C	XP_011535337.1:p.Asn388=
XM_017021523.1:c.1242T>C	XP_016877012.1:p.Asn414=
XM_017021524.2:c.279T>C	XP_016877013.1:p.Asn93=
XM_017021525.2:c.57T>C	XP_016877014.1:p.Asn19=
XM_017021526.2:c.57T>C	XP_016877015.1:p.Asn19=
XM_017021527.1:c.57T>C	XP_016877016.1:p.Asn19=
XR_001750470.1:n.1334T>C
XR_001750471.2:n.1334T>C
XR_001750472.1:n.1334T>C
NM_020937.4:c.1242T>C MANE Select	NP_065988.1:p.Asn414=
NM_001308133.2:c.1164T>C	NP_001295062.1:p.Asn388=
NM_001308134.2:c.1242T>C	NP_001295063.1:p.Asn414=