Canonical Allele Identifier: CA7450323

Gene: FAN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.30910758G>A , CM000677.2:g.30910758G>A	GRCh38
NC_000015.9:g.31202961G>A , CM000677.1:g.31202961G>A	GRCh37
NC_000015.8:g.28990253G>A	NCBI36
NG_032946.1:g.11907G>A
NG_032946.2:g.11907G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_014967.5:c.1520G>A MANE Select	NP_055782.3:p.Arg507His
ENST00000362065.9:c.1520G>A MANE Select	ENSP00000354497.4:p.Arg507His
NM_001146094.1:c.1520G>A	NP_001139566.1:p.Arg507His
NM_001146094.2:c.1520G>A	NP_001139566.1:p.Arg507His
NM_001146095.1:c.1520G>A	NP_001139567.1:p.Arg507His
NM_001146096.1:c.1520G>A	NP_001139568.1:p.Arg507His
NM_001146096.2:c.1520G>A	NP_001139568.1:p.Arg507His
NM_014967.4:c.1520G>A	NP_055782.3:p.Arg507His
ENST00000362065.8:c.1520G>A	ENSP00000354497.4:p.Arg507His
ENST00000561594.5:c.1520G>A	ENSP00000455983.1:p.Arg507His
ENST00000561607.5:c.1520G>A	ENSP00000454223.1:p.Arg507His
ENST00000561607.6:c.1520G>A	ENSP00000454223.1:p.Arg507His
ENST00000562892.2:c.230G>A	ENSP00000457680.2:p.Arg77His
ENST00000565280.5:c.*361G>A	ENSP00000455573.1:n.*361G>A
ENST00000565466.5:c.1520G>A	ENSP00000454544.1:p.Arg507His
ENST00000568145.6:n.396G>A
ENST00000602886.2:n.1697G>A
ENST00000654013.1:n.1651+2500G>A
ENST00000654056.1:c.230G>A	ENSP00000499726.1:p.Arg77His
ENST00000655421.1:n.1791G>A
ENST00000656109.1:n.465G>A
ENST00000656307.1:n.1772G>A
ENST00000656435.1:c.1520G>A	ENSP00000499534.1:p.Arg507His
ENST00000657391.1:c.1520G>A	ENSP00000499703.1:p.Arg507His
ENST00000658773.1:c.1520G>A	ENSP00000499742.1:p.Arg507His
ENST00000661974.1:c.869+2500G>A
ENST00000662114.1:n.2019G>A
ENST00000664070.1:c.1520G>A	ENSP00000499478.1:p.Arg507His
ENST00000664837.1:c.230G>A	ENSP00000499780.1:p.Arg77His
ENST00000665705.1:n.1614+2500G>A
ENST00000665894.1:n.1780G>A
ENST00000666143.1:c.230G>A	ENSP00000499576.1:p.Arg77His
ENST00000666852.1:n.1772G>A
ENST00000667837.1:n.1251G>A
ENST00000670074.1:c.*262G>A	ENSP00000499252.1:n.*262G>A
ENST00000670849.1:c.1520G>A	ENSP00000499638.1:p.Arg507His
XM_005254232.3:c.1520G>A	XP_005254289.1:p.Arg507His
XM_005254232.4:c.1520G>A	XP_005254289.1:p.Arg507His
XM_005254234.3:c.1520G>A	XP_005254291.1:p.Arg507His
XM_005254234.5:c.1520G>A	XP_005254291.1:p.Arg507His
XM_005254235.3:c.1520G>A	XP_005254292.1:p.Arg507His
XM_005254236.2:c.1520G>A	XP_005254293.1:p.Arg507His
XM_011521370.1:c.338G>A	XP_011519672.1:p.Arg113His
XM_011521370.2:c.338G>A	XP_011519672.1:p.Arg113His
XM_011521371.1:c.335G>A	XP_011519673.1:p.Arg112His
XM_011521372.1:c.1520G>A	XP_011519674.1:p.Arg507His
XM_011521372.2:c.1520G>A	XP_011519674.1:p.Arg507His
XM_017022012.2:c.-95+2500G>A	XP_016877501.1:n.-95+2500G>A
XM_017022013.1:c.-95+2500G>A	XP_016877502.1:n.-95+2500G>A
XM_024449874.1:c.335G>A	XP_024305642.1:p.Arg112His
XR_001751149.1:n.1819G>A
XR_001751151.1:n.1815G>A