Canonical Allele Identifier: CA7450362

Gene: FAN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.30913906G>A , CM000677.2:g.30913906G>A	GRCh38
NC_000015.9:g.31206109G>A , CM000677.1:g.31206109G>A	GRCh37
NC_000015.8:g.28993401G>A	NCBI36
NG_032946.1:g.15055G>A
NG_032946.2:g.15055G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362065.9:c.1626G>A MANE Select	ENSP00000354497.4:p.Arg542=
ENST00000568145.6:n.502G>A
ENST00000602886.2:n.1803G>A
ENST00000654013.1:n.1700G>A
ENST00000654056.1:c.336G>A	ENSP00000499726.1:p.Arg112=
ENST00000655421.1:n.1897G>A
ENST00000656109.1:n.571G>A
ENST00000656307.1:n.1878G>A
ENST00000656435.1:c.1626G>A	ENSP00000499534.1:p.Arg542=
ENST00000657391.1:c.1626G>A	ENSP00000499703.1:p.Arg542=
ENST00000661974.1:c.918G>A
ENST00000662114.1:n.2125G>A
ENST00000664070.1:c.*1166G>A	ENSP00000499478.1:n.*1166G>A
ENST00000664837.1:c.336G>A	ENSP00000499780.1:p.Arg112=
ENST00000665705.1:n.1663G>A
ENST00000665894.1:n.1886G>A
ENST00000666852.1:n.1878G>A
ENST00000667837.1:n.1357G>A
ENST00000670074.1:c.*368G>A	ENSP00000499252.1:n.*368G>A
ENST00000670849.1:c.1626G>A	ENSP00000499638.1:p.Arg542=
ENST00000362065.8:c.1626G>A	ENSP00000354497.4:p.Arg542=
ENST00000565280.5:c.*467G>A	ENSP00000455573.1:n.*467G>A
NM_014967.4:c.1626G>A	NP_055782.3:p.Arg542=
XM_005254232.3:c.1626G>A	XP_005254289.1:p.Arg542=
XM_005254234.3:c.1626G>A	XP_005254291.1:p.Arg542=
XM_005254235.3:c.1626G>A	XP_005254292.1:p.Arg542=
XM_005254236.2:c.1626G>A	XP_005254293.1:p.Arg542=
XM_011521370.1:c.444G>A	XP_011519672.1:p.Arg148=
XM_011521371.1:c.441G>A	XP_011519673.1:p.Arg147=
XM_011521372.1:c.1626G>A	XP_011519674.1:p.Arg542=
XM_005254232.4:c.1626G>A	XP_005254289.1:p.Arg542=
XM_005254234.5:c.1626G>A	XP_005254291.1:p.Arg542=
XM_011521370.2:c.444G>A	XP_011519672.1:p.Arg148=
XM_011521372.2:c.1626G>A	XP_011519674.1:p.Arg542=
XM_017022012.2:c.-46G>A	XP_016877501.1:n.-46G>A
XM_017022013.1:c.-46G>A	XP_016877502.1:n.-46G>A
XM_024449874.1:c.441G>A	XP_024305642.1:p.Arg147=
XR_001751149.1:n.1925G>A
XR_001751151.1:n.1921G>A
NM_014967.5:c.1626G>A MANE Select	NP_055782.3:p.Arg542=