Canonical Allele Identifier: CA389608297

Gene: FANCM

Linked Data

• ClinVar Variation Id: 843314
• ClinVar RCV Id: RCV001045911
• dbSNP Id: rs1889332251
• MyVariant Identifiers: chr14:g.45654523C>T (hg19) ; chr14:g.45185320C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.45185320C>T , CM000676.2:g.45185320C>T	GRCh38
NC_000014.8:g.45654523C>T , CM000676.1:g.45654523C>T	GRCh37
NC_000014.7:g.44724273C>T	NCBI36
NG_007417.1:g.54388C>T , LRG_502:g.54388C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000554809.6:c.2831C>T	ENSP00000450632.2:p.Ser944Phe
ENST00000555484.2:c.397C>T
ENST00000556250.6:c.4412C>T	ENSP00000452033.2:p.Ser1471Phe
ENST00000557110.2:c.397C>T
ENST00000696642.1:c.*3430C>T	ENSP00000512775.1:n.*3430C>T
ENST00000696644.1:n.355C>T
ENST00000696645.1:n.509C>T
ENST00000696647.1:c.4619C>T	ENSP00000512778.1:p.Ser1540Phe
ENST00000696648.1:c.*2644C>T	ENSP00000512779.1:n.*2644C>T
ENST00000696649.1:c.4463C>T	ENSP00000512780.1:p.Ser1488Phe
ENST00000696650.1:n.4567C>T
ENST00000696659.1:c.2617C>T
ENST00000696663.1:c.3550C>T
ENST00000696664.1:c.3451C>T
ENST00000696665.1:c.397C>T
ENST00000696675.1:c.*375C>T	ENSP00000512799.1:n.*375C>T
ENST00000696683.1:c.3436C>T
ENST00000696684.1:c.3436C>T
ENST00000696685.1:c.3436C>T
ENST00000696686.1:n.1356C>T
ENST00000267430.10:c.4619C>T MANE Select	ENSP00000267430.5:p.Ser1540Phe
ENST00000267430.9:c.4619C>T	ENSP00000267430.5:p.Ser1540Phe
ENST00000542564.6:c.4541C>T	ENSP00000442493.2:p.Ser1514Phe
ENST00000554809.5:c.1416C>T
ENST00000555013.1:n.452C>T
ENST00000556250.5:c.3167C>T	ENSP00000452033.1:p.Ser1056Phe
NM_001308133.1:c.4541C>T	NP_001295062.1:p.Ser1514Phe
NM_020937.2:c.4619C>T , LRG_502t1:c.4619C>T	NP_065988.1:p.Ser1540Phe
NM_020937.3:c.4619C>T	NP_065988.1:p.Ser1540Phe
XM_011537034.1:c.4634C>T	XP_011535336.1:p.Ser1545Phe
XM_011537035.1:c.4556C>T	XP_011535337.1:p.Ser1519Phe
XM_011537036.1:c.4634C>T	XP_011535338.1:p.Ser1545Phe
XM_011537037.1:c.2648C>T	XP_011535339.1:p.Ser883Phe
XM_011537034.2:c.4634C>T	XP_011535336.1:p.Ser1545Phe
XM_011537035.3:c.4556C>T	XP_011535337.1:p.Ser1519Phe
XM_011537037.3:c.2648C>T	XP_011535339.1:p.Ser883Phe
XM_017021523.1:c.4634C>T	XP_016877012.1:p.Ser1545Phe
XM_017021524.2:c.3671C>T	XP_016877013.1:p.Ser1224Phe
XM_017021525.2:c.3449C>T	XP_016877014.1:p.Ser1150Phe
XM_017021526.2:c.3449C>T	XP_016877015.1:p.Ser1150Phe
XM_017021527.1:c.3434C>T	XP_016877016.1:p.Ser1145Phe
XR_001750470.1:n.4726C>T
XR_001750471.2:n.4711C>T
XR_001750472.1:n.4763C>T
NM_020937.4:c.4619C>T MANE Select	NP_065988.1:p.Ser1540Phe
NM_001308133.2:c.4541C>T	NP_001295062.1:p.Ser1514Phe