Canonical Allele Identifier: CA389608200

Gene: FANCM

Linked Data

• gnomAD v4: 14-45185278-T-C
• MyVariant Identifiers: chr14:g.45654481T>C (hg19) ; chr14:g.45185278T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.45185278T>C , CM000676.2:g.45185278T>C	GRCh38
NC_000014.8:g.45654481T>C , CM000676.1:g.45654481T>C	GRCh37
NC_000014.7:g.44724231T>C	NCBI36
NG_007417.1:g.54346T>C , LRG_502:g.54346T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000554809.6:c.2789T>C	ENSP00000450632.2:p.Val930Ala
ENST00000555484.2:c.355T>C
ENST00000556250.6:c.4370T>C	ENSP00000452033.2:p.Val1457Ala
ENST00000557110.2:c.355T>C
ENST00000696642.1:c.*3388T>C	ENSP00000512775.1:n.*3388T>C
ENST00000696644.1:n.313T>C
ENST00000696645.1:n.467T>C
ENST00000696647.1:c.4577T>C	ENSP00000512778.1:p.Val1526Ala
ENST00000696648.1:c.*2602T>C	ENSP00000512779.1:n.*2602T>C
ENST00000696649.1:c.4421T>C	ENSP00000512780.1:p.Val1474Ala
ENST00000696650.1:n.4525T>C
ENST00000696659.1:c.2575T>C
ENST00000696663.1:c.3508T>C
ENST00000696664.1:c.3409T>C
ENST00000696665.1:c.355T>C
ENST00000696675.1:c.*333T>C	ENSP00000512799.1:n.*333T>C
ENST00000696683.1:c.3394T>C
ENST00000696684.1:c.3394T>C
ENST00000696685.1:c.3394T>C
ENST00000696686.1:n.1314T>C
ENST00000267430.10:c.4577T>C MANE Select	ENSP00000267430.5:p.Val1526Ala
ENST00000267430.9:c.4577T>C	ENSP00000267430.5:p.Val1526Ala
ENST00000542564.6:c.4499T>C	ENSP00000442493.2:p.Val1500Ala
ENST00000554809.5:c.1374T>C
ENST00000555013.1:n.410T>C
ENST00000556250.5:c.3125T>C	ENSP00000452033.1:p.Val1042Ala
NM_001308133.1:c.4499T>C	NP_001295062.1:p.Val1500Ala
NM_020937.2:c.4577T>C , LRG_502t1:c.4577T>C	NP_065988.1:p.Val1526Ala
NM_020937.3:c.4577T>C	NP_065988.1:p.Val1526Ala
XM_011537034.1:c.4592T>C	XP_011535336.1:p.Val1531Ala
XM_011537035.1:c.4514T>C	XP_011535337.1:p.Val1505Ala
XM_011537036.1:c.4592T>C	XP_011535338.1:p.Val1531Ala
XM_011537037.1:c.2606T>C	XP_011535339.1:p.Val869Ala
XM_011537034.2:c.4592T>C	XP_011535336.1:p.Val1531Ala
XM_011537035.3:c.4514T>C	XP_011535337.1:p.Val1505Ala
XM_011537037.3:c.2606T>C	XP_011535339.1:p.Val869Ala
XM_017021523.1:c.4592T>C	XP_016877012.1:p.Val1531Ala
XM_017021524.2:c.3629T>C	XP_016877013.1:p.Val1210Ala
XM_017021525.2:c.3407T>C	XP_016877014.1:p.Val1136Ala
XM_017021526.2:c.3407T>C	XP_016877015.1:p.Val1136Ala
XM_017021527.1:c.3392T>C	XP_016877016.1:p.Val1131Ala
XR_001750470.1:n.4684T>C
XR_001750471.2:n.4669T>C
XR_001750472.1:n.4721T>C
NM_020937.4:c.4577T>C MANE Select	NP_065988.1:p.Val1526Ala
NM_001308133.2:c.4499T>C	NP_001295062.1:p.Val1500Ala