Canonical Allele Identifier: CA389592749

Gene: FANCM

Linked Data

• ClinVar Variation Id: 1510752
• ClinVar RCV Id: RCV002014099
• dbSNP Id: rs766715021
• MyVariant Identifiers: chr14:g.45628479T>A (hg19) ; chr14:g.45159276T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.45159276T>A , CM000676.2:g.45159276T>A	GRCh38
NC_000014.8:g.45628479T>A , CM000676.1:g.45628479T>A	GRCh37
NC_000014.7:g.44698229T>A	NCBI36
NG_007417.1:g.28344T>A , LRG_502:g.28344T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556036.6:c.1577T>A	ENSP00000450596.1:p.Leu526Gln
ENST00000556250.6:c.1577T>A	ENSP00000452033.2:p.Leu526Gln
ENST00000696641.1:c.1418T>A	ENSP00000512774.1:p.Leu473Gln
ENST00000696642.1:c.*388T>A	ENSP00000512775.1:n.*388T>A
ENST00000696643.1:c.1577T>A	ENSP00000512776.1:p.Leu526Gln
ENST00000696646.1:c.*388T>A	ENSP00000512777.1:n.*388T>A
ENST00000696647.1:c.1577T>A	ENSP00000512778.1:p.Leu526Gln
ENST00000696648.1:c.1577T>A	ENSP00000512779.1:p.Leu526Gln
ENST00000696649.1:c.1577T>A	ENSP00000512780.1:p.Leu526Gln
ENST00000696650.1:n.1525T>A
ENST00000696658.1:n.2127T>A
ENST00000696662.1:c.1499T>A	ENSP00000512788.1:p.Leu500Gln
ENST00000696663.1:c.394T>A
ENST00000696664.1:c.394T>A
ENST00000696675.1:c.1577T>A	ENSP00000512799.1:p.Leu526Gln
ENST00000696680.1:c.1445T>A	ENSP00000512803.1:p.Leu482Gln
ENST00000696681.1:c.*388T>A	ENSP00000512804.1:n.*388T>A
ENST00000696682.1:c.1577T>A	ENSP00000512805.1:p.Leu526Gln
ENST00000696683.1:c.394T>A
ENST00000696684.1:c.394T>A
ENST00000696685.1:c.394T>A
ENST00000267430.10:c.1577T>A MANE Select	ENSP00000267430.5:p.Leu526Gln
ENST00000267430.9:c.1577T>A	ENSP00000267430.5:p.Leu526Gln
ENST00000542564.6:c.1499T>A	ENSP00000442493.2:p.Leu500Gln
ENST00000556036.5:c.1577T>A	ENSP00000450596.1:p.Leu526Gln
ENST00000556250.5:c.332T>A	ENSP00000452033.1:p.Leu111Gln
NM_001308133.1:c.1499T>A	NP_001295062.1:p.Leu500Gln
NM_001308134.1:c.1577T>A	NP_001295063.1:p.Leu526Gln
NM_020937.2:c.1577T>A , LRG_502t1:c.1577T>A	NP_065988.1:p.Leu526Gln
NM_020937.3:c.1577T>A	NP_065988.1:p.Leu526Gln
XM_011537034.1:c.1577T>A	XP_011535336.1:p.Leu526Gln
XM_011537035.1:c.1499T>A	XP_011535337.1:p.Leu500Gln
XM_011537036.1:c.1577T>A	XP_011535338.1:p.Leu526Gln
XM_011537034.2:c.1577T>A	XP_011535336.1:p.Leu526Gln
XM_011537035.3:c.1499T>A	XP_011535337.1:p.Leu500Gln
XM_017021523.1:c.1577T>A	XP_016877012.1:p.Leu526Gln
XM_017021524.2:c.614T>A	XP_016877013.1:p.Leu205Gln
XM_017021525.2:c.392T>A	XP_016877014.1:p.Leu131Gln
XM_017021526.2:c.392T>A	XP_016877015.1:p.Leu131Gln
XM_017021527.1:c.392T>A	XP_016877016.1:p.Leu131Gln
XR_001750470.1:n.1669T>A
XR_001750471.2:n.1669T>A
XR_001750472.1:n.1669T>A
NM_020937.4:c.1577T>A MANE Select	NP_065988.1:p.Leu526Gln
NM_001308133.2:c.1499T>A	NP_001295062.1:p.Leu500Gln
NM_001308134.2:c.1577T>A	NP_001295063.1:p.Leu526Gln