Canonical Allele Identifier: CA486141396

Gene: FANCM

Linked Data

• ClinVar Variation Id: 1086371
• ClinVar RCV Id: RCV001404090
• dbSNP Id: rs1394104664
• gnomAD v2: 14-45654528-T-C
• gnomAD v3: 14-45185325-T-C
• gnomAD v4: 14-45185325-T-C
• MyVariant Identifiers: chr14:g.45654528T>C (hg19) ; chr14:g.45185325T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.45185325T>C , CM000676.2:g.45185325T>C	GRCh38
NC_000014.8:g.45654528T>C , CM000676.1:g.45654528T>C	GRCh37
NC_000014.7:g.44724278T>C	NCBI36
NG_007417.1:g.54393T>C , LRG_502:g.54393T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000554809.6:c.2836T>C	ENSP00000450632.2:p.Leu946=
ENST00000555484.2:c.402T>C
ENST00000556250.6:c.4417T>C	ENSP00000452033.2:p.Leu1473=
ENST00000557110.2:c.402T>C
ENST00000696642.1:c.*3435T>C	ENSP00000512775.1:n.*3435T>C
ENST00000696644.1:n.360T>C
ENST00000696645.1:n.514T>C
ENST00000696647.1:c.4624T>C	ENSP00000512778.1:p.Leu1542=
ENST00000696648.1:c.*2649T>C	ENSP00000512779.1:n.*2649T>C
ENST00000696649.1:c.4468T>C	ENSP00000512780.1:p.Leu1490=
ENST00000696650.1:n.4572T>C
ENST00000696659.1:c.2622T>C
ENST00000696663.1:c.3555T>C
ENST00000696664.1:c.3456T>C
ENST00000696665.1:c.402T>C
ENST00000696675.1:c.*380T>C	ENSP00000512799.1:n.*380T>C
ENST00000696683.1:c.3441T>C
ENST00000696684.1:c.3441T>C
ENST00000696685.1:c.3441T>C
ENST00000696686.1:n.1361T>C
ENST00000267430.10:c.4624T>C MANE Select	ENSP00000267430.5:p.Leu1542=
ENST00000267430.9:c.4624T>C	ENSP00000267430.5:p.Leu1542=
ENST00000542564.6:c.4546T>C	ENSP00000442493.2:p.Leu1516=
ENST00000554809.5:c.1421T>C
ENST00000555013.1:n.457T>C
ENST00000556250.5:c.3172T>C	ENSP00000452033.1:p.Leu1058=
NM_001308133.1:c.4546T>C	NP_001295062.1:p.Leu1516=
NM_020937.2:c.4624T>C , LRG_502t1:c.4624T>C	NP_065988.1:p.Leu1542=
NM_020937.3:c.4624T>C	NP_065988.1:p.Leu1542=
XM_011537034.1:c.4639T>C	XP_011535336.1:p.Leu1547=
XM_011537035.1:c.4561T>C	XP_011535337.1:p.Leu1521=
XM_011537036.1:c.4639T>C	XP_011535338.1:p.Leu1547=
XM_011537037.1:c.2653T>C	XP_011535339.1:p.Leu885=
XM_011537034.2:c.4639T>C	XP_011535336.1:p.Leu1547=
XM_011537035.3:c.4561T>C	XP_011535337.1:p.Leu1521=
XM_011537037.3:c.2653T>C	XP_011535339.1:p.Leu885=
XM_017021523.1:c.4639T>C	XP_016877012.1:p.Leu1547=
XM_017021524.2:c.3676T>C	XP_016877013.1:p.Leu1226=
XM_017021525.2:c.3454T>C	XP_016877014.1:p.Leu1152=
XM_017021526.2:c.3454T>C	XP_016877015.1:p.Leu1152=
XM_017021527.1:c.3439T>C	XP_016877016.1:p.Leu1147=
XR_001750470.1:n.4731T>C
XR_001750471.2:n.4716T>C
XR_001750472.1:n.4768T>C
NM_020937.4:c.4624T>C MANE Select	NP_065988.1:p.Leu1542=
NM_001308133.2:c.4546T>C	NP_001295062.1:p.Leu1516=