Canonical Allele Identifier: CA7450011

Gene: FAN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.30904892G>T , CM000677.2:g.30904892G>T	GRCh38
NC_000015.9:g.31197095G>T , CM000677.1:g.31197095G>T	GRCh37
NC_000015.8:g.28984387G>T	NCBI36
NG_032946.1:g.6041G>T
NG_032946.2:g.6041G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362065.9:c.229G>T MANE Select	ENSP00000354497.4:p.Val77Phe
ENST00000561607.6:c.229G>T	ENSP00000454223.1:p.Val77Phe
ENST00000562892.2:c.-57+302G>T	ENSP00000457680.2:n.-57+302G>T
ENST00000568145.6:n.110+302G>T
ENST00000602886.2:n.406G>T
ENST00000654013.1:n.505G>T
ENST00000654056.1:c.-57+302G>T	ENSP00000499726.1:n.-57+302G>T
ENST00000655421.1:n.500G>T
ENST00000656109.1:n.179+302G>T
ENST00000656307.1:n.481G>T
ENST00000656435.1:c.229G>T	ENSP00000499534.1:p.Val77Phe
ENST00000657391.1:c.229G>T	ENSP00000499703.1:p.Val77Phe
ENST00000658773.1:c.229G>T	ENSP00000499742.1:p.Val77Phe
ENST00000662114.1:n.485G>T
ENST00000664070.1:c.229G>T	ENSP00000499478.1:p.Val77Phe
ENST00000664837.1:c.-57+302G>T	ENSP00000499780.1:n.-57+302G>T
ENST00000665705.1:n.468G>T
ENST00000665894.1:n.489G>T
ENST00000666143.1:c.-230+302G>T	ENSP00000499576.1:n.-230+302G>T
ENST00000666852.1:n.481G>T
ENST00000667837.1:n.504G>T
ENST00000670074.1:c.229G>T	ENSP00000499252.1:p.Val77Phe
ENST00000670849.1:c.229G>T	ENSP00000499638.1:p.Val77Phe
ENST00000362065.8:c.229G>T	ENSP00000354497.4:p.Val77Phe
ENST00000561594.5:c.229G>T	ENSP00000455983.1:p.Val77Phe
ENST00000561607.5:c.229G>T	ENSP00000454223.1:p.Val77Phe
ENST00000562892.1:c.52+302G>T	ENSP00000457680.1:n.52+302G>T
ENST00000565280.5:c.229G>T	ENSP00000455573.1:p.Val77Phe
ENST00000565466.5:c.229G>T	ENSP00000454544.1:p.Val77Phe
NM_001146094.1:c.229G>T	NP_001139566.1:p.Val77Phe
NM_001146095.1:c.229G>T	NP_001139567.1:p.Val77Phe
NM_001146096.1:c.229G>T	NP_001139568.1:p.Val77Phe
NM_014967.4:c.229G>T	NP_055782.3:p.Val77Phe
XM_005254232.3:c.229G>T	XP_005254289.1:p.Val77Phe
XM_005254234.3:c.229G>T	XP_005254291.1:p.Val77Phe
XM_005254235.3:c.229G>T	XP_005254292.1:p.Val77Phe
XM_005254236.2:c.229G>T	XP_005254293.1:p.Val77Phe
XM_011521370.1:c.52+302G>T	XP_011519672.1:n.52+302G>T
XM_011521371.1:c.-1091G>T	XP_011519673.1:n.-1091G>T
XM_011521372.1:c.229G>T	XP_011519674.1:p.Val77Phe
XM_005254232.4:c.229G>T	XP_005254289.1:p.Val77Phe
XM_005254234.5:c.229G>T	XP_005254291.1:p.Val77Phe
XM_011521370.2:c.52+302G>T	XP_011519672.1:n.52+302G>T
XM_011521372.2:c.229G>T	XP_011519674.1:p.Val77Phe
XM_017022012.2:c.-1241G>T	XP_016877501.1:n.-1241G>T
XM_017022013.1:c.-1241G>T	XP_016877502.1:n.-1241G>T
XM_024449874.1:c.-1091G>T	XP_024305642.1:n.-1091G>T
XR_001751149.1:n.528G>T
XR_001751151.1:n.524G>T
NM_014967.5:c.229G>T MANE Select	NP_055782.3:p.Val77Phe
NM_001146094.2:c.229G>T	NP_001139566.1:p.Val77Phe
NM_001146096.2:c.229G>T	NP_001139568.1:p.Val77Phe