Canonical Allele Identifier: CA7450793

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.30930590G>A , CM000677.2:g.30930590G>A GRCh38
NC_000015.9:g.31222793G>A , CM000677.1:g.31222793G>A GRCh37
NC_000015.8:g.29010085G>A NCBI36
NG_032946.1:g.31739G>A
NG_032946.2:g.31739G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000362065.9:c.2835G>A (FAN1) MANE Select ENSP00000354497.4:p.Arg945=
ENST00000562881.2:n.4962G>A (FAN1)
ENST00000654056.1:c.*679G>A (FAN1) ENSP00000499726.1:n.*679G>A
ENST00000655421.1:n.6216G>A (FAN1)
ENST00000656307.1:n.5700G>A (FAN1)
ENST00000656435.1:c.2835G>A (FAN1) ENSP00000499534.1:p.Arg945=
ENST00000657391.1:c.2835G>A (FAN1) ENSP00000499703.1:p.Arg945=
ENST00000661974.1:c.4740G>A (FAN1)
ENST00000664070.1:c.*2375G>A (FAN1) ENSP00000499478.1:n.*2375G>A
ENST00000664837.1:c.1545G>A (FAN1) ENSP00000499780.1:p.Arg515=
ENST00000667837.1:n.2647G>A (FAN1)
ENST00000670074.1:c.*1577G>A (FAN1) ENSP00000499252.1:n.*1577G>A
ENST00000670849.1:c.2835G>A (FAN1) ENSP00000499638.1:p.Arg945=
ENST00000362065.8:c.2835G>A (FAN1) ENSP00000354497.4:p.Arg945=
ENST00000562881.1:n.476G>A (FAN1)
ENST00000565280.5:c.*1676G>A (FAN1) ENSP00000455573.1:n.*1676G>A
ENST00000568145.5:n.787G>A (FAN1)
NM_014967.4:c.2835G>A (FAN1) NP_055782.3:p.Arg945=
XM_005254232.3:c.2835G>A (FAN1) XP_005254289.1:p.Arg945=
XM_005254234.3:c.2835G>A (FAN1) XP_005254291.1:p.Arg945=
XM_005254235.3:c.2835G>A (FAN1) XP_005254292.1:p.Arg945=
XM_011521370.1:c.1653G>A (FAN1) XP_011519672.1:p.Arg551=
XM_011521371.1:c.1650G>A (FAN1) XP_011519673.1:p.Arg550=
XM_011521736.1:c.1549-1780C>T (MTMR10) XP_011520038.1:n.1549-1780C>T
XM_011521737.1:c.1549-10667C>T (MTMR10) XP_011520039.1:n.1549-10667C>T
XM_005254232.4:c.2835G>A (FAN1) XP_005254289.1:p.Arg945=
XM_005254234.5:c.2835G>A (FAN1) XP_005254291.1:p.Arg945=
XM_011521370.2:c.1653G>A (FAN1) XP_011519672.1:p.Arg551=
XM_011521737.3:c.1549-10667C>T (MTMR10) XP_011520039.1:n.1549-10667C>T
XM_017022012.2:c.1164G>A (FAN1) XP_016877501.1:p.Arg388=
XM_017022013.1:c.1164G>A (FAN1) XP_016877502.1:p.Arg388=
XM_024449874.1:c.1650G>A (FAN1) XP_024305642.1:p.Arg550=
XR_001751149.1:n.5079G>A (FAN1)
XR_001751151.1:n.5075G>A (FAN1)
NM_014967.5:c.2835G>A (FAN1) MANE Select NP_055782.3:p.Arg945=