Canonical Allele Identifier: CA389591288

Gene: FANCM

Linked Data

• dbSNP Id: rs2139171748
• gnomAD v4: 14-45154775-C-T
• MyVariant Identifiers: chr14:g.45623978C>T (hg19) ; chr14:g.45154775C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.45154775C>T , CM000676.2:g.45154775C>T	GRCh38
NC_000014.8:g.45623978C>T , CM000676.1:g.45623978C>T	GRCh37
NC_000014.7:g.44693728C>T	NCBI36
NG_007417.1:g.23843C>T , LRG_502:g.23843C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000556036.6:c.1262C>T	ENSP00000450596.1:p.Ala421Val
ENST00000556250.6:c.1262C>T	ENSP00000452033.2:p.Ala421Val
ENST00000696641.1:c.1103C>T	ENSP00000512774.1:p.Ala368Val
ENST00000696642.1:c.*73C>T	ENSP00000512775.1:n.*73C>T
ENST00000696643.1:c.1262C>T	ENSP00000512776.1:p.Ala421Val
ENST00000696646.1:c.*73C>T	ENSP00000512777.1:n.*73C>T
ENST00000696647.1:c.1262C>T	ENSP00000512778.1:p.Ala421Val
ENST00000696648.1:c.1262C>T	ENSP00000512779.1:p.Ala421Val
ENST00000696649.1:c.1262C>T	ENSP00000512780.1:p.Ala421Val
ENST00000696650.1:n.1210C>T
ENST00000696657.1:c.*480C>T	ENSP00000512784.1:n.*480C>T
ENST00000696658.1:n.1812C>T
ENST00000696662.1:c.1184C>T	ENSP00000512788.1:p.Ala395Val
ENST00000696663.1:c.79C>T
ENST00000696664.1:c.79C>T
ENST00000696675.1:c.1262C>T	ENSP00000512799.1:p.Ala421Val
ENST00000696680.1:c.1130C>T	ENSP00000512803.1:p.Ala377Val
ENST00000696681.1:c.*73C>T	ENSP00000512804.1:n.*73C>T
ENST00000696682.1:c.1262C>T	ENSP00000512805.1:p.Ala421Val
ENST00000696683.1:c.79C>T
ENST00000696684.1:c.79C>T
ENST00000696685.1:c.79C>T
ENST00000267430.10:c.1262C>T MANE Select	ENSP00000267430.5:p.Ala421Val
ENST00000267430.9:c.1262C>T	ENSP00000267430.5:p.Ala421Val
ENST00000542564.6:c.1184C>T	ENSP00000442493.2:p.Ala395Val
ENST00000556036.5:c.1262C>T	ENSP00000450596.1:p.Ala421Val
ENST00000556250.5:c.17C>T	ENSP00000452033.1:p.Ala6Val
NM_001308133.1:c.1184C>T	NP_001295062.1:p.Ala395Val
NM_001308134.1:c.1262C>T	NP_001295063.1:p.Ala421Val
NM_020937.2:c.1262C>T , LRG_502t1:c.1262C>T	NP_065988.1:p.Ala421Val
NM_020937.3:c.1262C>T	NP_065988.1:p.Ala421Val
XM_011537034.1:c.1262C>T	XP_011535336.1:p.Ala421Val
XM_011537035.1:c.1184C>T	XP_011535337.1:p.Ala395Val
XM_011537036.1:c.1262C>T	XP_011535338.1:p.Ala421Val
XM_011537034.2:c.1262C>T	XP_011535336.1:p.Ala421Val
XM_011537035.3:c.1184C>T	XP_011535337.1:p.Ala395Val
XM_017021523.1:c.1262C>T	XP_016877012.1:p.Ala421Val
XM_017021524.2:c.299C>T	XP_016877013.1:p.Ala100Val
XM_017021525.2:c.77C>T	XP_016877014.1:p.Ala26Val
XM_017021526.2:c.77C>T	XP_016877015.1:p.Ala26Val
XM_017021527.1:c.77C>T	XP_016877016.1:p.Ala26Val
XR_001750470.1:n.1354C>T
XR_001750471.2:n.1354C>T
XR_001750472.1:n.1354C>T
NM_020937.4:c.1262C>T MANE Select	NP_065988.1:p.Ala421Val
NM_001308133.2:c.1184C>T	NP_001295062.1:p.Ala395Val
NM_001308134.2:c.1262C>T	NP_001295063.1:p.Ala421Val