Canonical Allele Identifier: CA389591109

Gene: FANCM

Linked Data

• dbSNP Id: rs1166587869
• gnomAD v4: 14-45154709-C-A
• MyVariant Identifiers: chr14:g.45623912C>A (hg19) ; chr14:g.45154709C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.45154709C>A , CM000676.2:g.45154709C>A	GRCh38
NC_000014.8:g.45623912C>A , CM000676.1:g.45623912C>A	GRCh37
NC_000014.7:g.44693662C>A	NCBI36
NG_007417.1:g.23777C>A , LRG_502:g.23777C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556036.6:c.1196C>A	ENSP00000450596.1:p.Ser399Ter
ENST00000556250.6:c.1196C>A	ENSP00000452033.2:p.Ser399Ter
ENST00000696641.1:c.1037C>A	ENSP00000512774.1:p.Ser346Ter
ENST00000696642.1:c.*7C>A	ENSP00000512775.1:n.*7C>A
ENST00000696643.1:c.1196C>A	ENSP00000512776.1:p.Ser399Ter
ENST00000696646.1:c.*7C>A	ENSP00000512777.1:n.*7C>A
ENST00000696647.1:c.1196C>A	ENSP00000512778.1:p.Ser399Ter
ENST00000696648.1:c.1196C>A	ENSP00000512779.1:p.Ser399Ter
ENST00000696649.1:c.1196C>A	ENSP00000512780.1:p.Ser399Ter
ENST00000696650.1:n.1144C>A
ENST00000696657.1:c.*414C>A	ENSP00000512784.1:n.*414C>A
ENST00000696658.1:n.1746C>A
ENST00000696662.1:c.1118C>A	ENSP00000512788.1:p.Ser373Ter
ENST00000696663.1:c.13C>A
ENST00000696664.1:c.13C>A
ENST00000696675.1:c.1196C>A	ENSP00000512799.1:p.Ser399Ter
ENST00000696680.1:c.1064C>A	ENSP00000512803.1:p.Ser355Ter
ENST00000696681.1:c.*7C>A	ENSP00000512804.1:n.*7C>A
ENST00000696682.1:c.1196C>A	ENSP00000512805.1:p.Ser399Ter
ENST00000696683.1:c.13C>A
ENST00000696684.1:c.13C>A
ENST00000696685.1:c.13C>A
ENST00000267430.10:c.1196C>A MANE Select	ENSP00000267430.5:p.Ser399Ter
ENST00000267430.9:c.1196C>A	ENSP00000267430.5:p.Ser399Ter
ENST00000542564.6:c.1118C>A	ENSP00000442493.2:p.Ser373Ter
ENST00000556036.5:c.1196C>A	ENSP00000450596.1:p.Ser399Ter
NM_001308133.1:c.1118C>A	NP_001295062.1:p.Ser373Ter
NM_001308134.1:c.1196C>A	NP_001295063.1:p.Ser399Ter
NM_020937.2:c.1196C>A , LRG_502t1:c.1196C>A	NP_065988.1:p.Ser399Ter
NM_020937.3:c.1196C>A	NP_065988.1:p.Ser399Ter
XM_011537034.1:c.1196C>A	XP_011535336.1:p.Ser399Ter
XM_011537035.1:c.1118C>A	XP_011535337.1:p.Ser373Ter
XM_011537036.1:c.1196C>A	XP_011535338.1:p.Ser399Ter
XM_011537034.2:c.1196C>A	XP_011535336.1:p.Ser399Ter
XM_011537035.3:c.1118C>A	XP_011535337.1:p.Ser373Ter
XM_017021523.1:c.1196C>A	XP_016877012.1:p.Ser399Ter
XM_017021524.2:c.233C>A	XP_016877013.1:p.Ser78Ter
XM_017021525.2:c.11C>A	XP_016877014.1:p.Ser4Ter
XM_017021526.2:c.11C>A	XP_016877015.1:p.Ser4Ter
XM_017021527.1:c.11C>A	XP_016877016.1:p.Ser4Ter
XR_001750470.1:n.1288C>A
XR_001750471.2:n.1288C>A
XR_001750472.1:n.1288C>A
NM_020937.4:c.1196C>A MANE Select	NP_065988.1:p.Ser399Ter
NM_001308133.2:c.1118C>A	NP_001295062.1:p.Ser373Ter
NM_001308134.2:c.1196C>A	NP_001295063.1:p.Ser399Ter