Canonical Allele Identifier: CA389608196

Gene: FANCM

Linked Data

• MyVariant Identifiers: chr14:g.45654479T>G (hg19) ; chr14:g.45185276T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.45185276T>G , CM000676.2:g.45185276T>G	GRCh38
NC_000014.8:g.45654479T>G , CM000676.1:g.45654479T>G	GRCh37
NC_000014.7:g.44724229T>G	NCBI36
NG_007417.1:g.54344T>G , LRG_502:g.54344T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000554809.6:c.2787T>G	ENSP00000450632.2:p.Tyr929Ter
ENST00000555484.2:c.353T>G
ENST00000556250.6:c.4368T>G	ENSP00000452033.2:p.Tyr1456Ter
ENST00000557110.2:c.353T>G
ENST00000696642.1:c.*3386T>G	ENSP00000512775.1:n.*3386T>G
ENST00000696644.1:n.311T>G
ENST00000696645.1:n.465T>G
ENST00000696647.1:c.4575T>G	ENSP00000512778.1:p.Tyr1525Ter
ENST00000696648.1:c.*2600T>G	ENSP00000512779.1:n.*2600T>G
ENST00000696649.1:c.4419T>G	ENSP00000512780.1:p.Tyr1473Ter
ENST00000696650.1:n.4523T>G
ENST00000696659.1:c.2573T>G
ENST00000696663.1:c.3506T>G
ENST00000696664.1:c.3407T>G
ENST00000696665.1:c.353T>G
ENST00000696675.1:c.*331T>G	ENSP00000512799.1:n.*331T>G
ENST00000696683.1:c.3392T>G
ENST00000696684.1:c.3392T>G
ENST00000696685.1:c.3392T>G
ENST00000696686.1:n.1312T>G
ENST00000267430.10:c.4575T>G MANE Select	ENSP00000267430.5:p.Tyr1525Ter
ENST00000267430.9:c.4575T>G	ENSP00000267430.5:p.Tyr1525Ter
ENST00000542564.6:c.4497T>G	ENSP00000442493.2:p.Tyr1499Ter
ENST00000554809.5:c.1372T>G
ENST00000555013.1:n.408T>G
ENST00000556250.5:c.3123T>G	ENSP00000452033.1:p.Tyr1041Ter
NM_001308133.1:c.4497T>G	NP_001295062.1:p.Tyr1499Ter
NM_020937.2:c.4575T>G , LRG_502t1:c.4575T>G	NP_065988.1:p.Tyr1525Ter
NM_020937.3:c.4575T>G	NP_065988.1:p.Tyr1525Ter
XM_011537034.1:c.4590T>G	XP_011535336.1:p.Tyr1530Ter
XM_011537035.1:c.4512T>G	XP_011535337.1:p.Tyr1504Ter
XM_011537036.1:c.4590T>G	XP_011535338.1:p.Tyr1530Ter
XM_011537037.1:c.2604T>G	XP_011535339.1:p.Tyr868Ter
XM_011537034.2:c.4590T>G	XP_011535336.1:p.Tyr1530Ter
XM_011537035.3:c.4512T>G	XP_011535337.1:p.Tyr1504Ter
XM_011537037.3:c.2604T>G	XP_011535339.1:p.Tyr868Ter
XM_017021523.1:c.4590T>G	XP_016877012.1:p.Tyr1530Ter
XM_017021524.2:c.3627T>G	XP_016877013.1:p.Tyr1209Ter
XM_017021525.2:c.3405T>G	XP_016877014.1:p.Tyr1135Ter
XM_017021526.2:c.3405T>G	XP_016877015.1:p.Tyr1135Ter
XM_017021527.1:c.3390T>G	XP_016877016.1:p.Tyr1130Ter
XR_001750470.1:n.4682T>G
XR_001750471.2:n.4667T>G
XR_001750472.1:n.4719T>G
NM_020937.4:c.4575T>G MANE Select	NP_065988.1:p.Tyr1525Ter
NM_001308133.2:c.4497T>G	NP_001295062.1:p.Tyr1499Ter