Canonical Allele Identifier: CA489643201

Gene: FAN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.30914017C>T , CM000677.2:g.30914017C>T	GRCh38
NC_000015.9:g.31206220C>T , CM000677.1:g.31206220C>T	GRCh37
NC_000015.8:g.28993512C>T	NCBI36
NG_032946.1:g.15166C>T
NG_032946.2:g.15166C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362065.9:c.1737C>T MANE Select	ENSP00000354497.4:p.Leu579=
ENST00000568145.6:n.613C>T
ENST00000602886.2:n.1914C>T
ENST00000654013.1:n.1811C>T
ENST00000654056.1:c.447C>T	ENSP00000499726.1:p.Leu149=
ENST00000655421.1:n.2008C>T
ENST00000656109.1:n.682C>T
ENST00000656307.1:n.1989C>T
ENST00000656435.1:c.1737C>T	ENSP00000499534.1:p.Leu579=
ENST00000657391.1:c.1737C>T	ENSP00000499703.1:p.Leu579=
ENST00000661974.1:c.1029C>T
ENST00000662114.1:n.2236C>T
ENST00000664070.1:c.*1277C>T	ENSP00000499478.1:n.*1277C>T
ENST00000664837.1:c.447C>T	ENSP00000499780.1:p.Leu149=
ENST00000665705.1:n.1774C>T
ENST00000665894.1:n.1997C>T
ENST00000666852.1:n.1989C>T
ENST00000667837.1:n.1468C>T
ENST00000670074.1:c.*479C>T	ENSP00000499252.1:n.*479C>T
ENST00000670849.1:c.1737C>T	ENSP00000499638.1:p.Leu579=
ENST00000362065.8:c.1737C>T	ENSP00000354497.4:p.Leu579=
ENST00000565280.5:c.*578C>T	ENSP00000455573.1:n.*578C>T
NM_014967.4:c.1737C>T	NP_055782.3:p.Leu579=
XM_005254232.3:c.1737C>T	XP_005254289.1:p.Leu579=
XM_005254234.3:c.1737C>T	XP_005254291.1:p.Leu579=
XM_005254235.3:c.1737C>T	XP_005254292.1:p.Leu579=
XM_005254236.2:c.1737C>T	XP_005254293.1:p.Leu579=
XM_011521370.1:c.555C>T	XP_011519672.1:p.Leu185=
XM_011521371.1:c.552C>T	XP_011519673.1:p.Leu184=
XM_011521372.1:c.1737C>T	XP_011519674.1:p.Leu579=
XM_005254232.4:c.1737C>T	XP_005254289.1:p.Leu579=
XM_005254234.5:c.1737C>T	XP_005254291.1:p.Leu579=
XM_011521370.2:c.555C>T	XP_011519672.1:p.Leu185=
XM_011521372.2:c.1737C>T	XP_011519674.1:p.Leu579=
XM_017022012.2:c.66C>T	XP_016877501.1:p.Leu22=
XM_017022013.1:c.66C>T	XP_016877502.1:p.Leu22=
XM_024449874.1:c.552C>T	XP_024305642.1:p.Leu184=
XR_001751149.1:n.2036C>T
XR_001751151.1:n.2032C>T
NM_014967.5:c.1737C>T MANE Select	NP_055782.3:p.Leu579=