Canonical Allele Identifier: CA7450739

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.30929325G>A , CM000677.2:g.30929325G>A GRCh38
NC_000015.9:g.31221528G>A , CM000677.1:g.31221528G>A GRCh37
NC_000015.8:g.29008820G>A NCBI36
NG_032946.1:g.30474G>A
NG_032946.2:g.30474G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000362065.9:c.2715G>A (FAN1) MANE Select ENSP00000354497.4:p.Thr905=
ENST00000562881.2:n.4842G>A (FAN1)
ENST00000654056.1:c.*559G>A (FAN1) ENSP00000499726.1:n.*559G>A
ENST00000655421.1:n.6096G>A (FAN1)
ENST00000656307.1:n.5580G>A (FAN1)
ENST00000656435.1:c.2715G>A (FAN1) ENSP00000499534.1:p.Thr905=
ENST00000657391.1:c.2715G>A (FAN1) ENSP00000499703.1:p.Thr905=
ENST00000661974.1:c.4620G>A (FAN1)
ENST00000664070.1:c.*2255G>A (FAN1) ENSP00000499478.1:n.*2255G>A
ENST00000664837.1:c.1425G>A (FAN1) ENSP00000499780.1:p.Thr475=
ENST00000667837.1:n.2527G>A (FAN1)
ENST00000670074.1:c.*1457G>A (FAN1) ENSP00000499252.1:n.*1457G>A
ENST00000670849.1:c.2715G>A (FAN1) ENSP00000499638.1:p.Thr905=
ENST00000362065.8:c.2715G>A (FAN1) ENSP00000354497.4:p.Thr905=
ENST00000562881.1:n.356G>A (FAN1)
ENST00000565280.5:c.*1556G>A (FAN1) ENSP00000455573.1:n.*1556G>A
ENST00000568145.5:n.667G>A (FAN1)
NM_014967.4:c.2715G>A (FAN1) NP_055782.3:p.Thr905=
XM_005254232.3:c.2715G>A (FAN1) XP_005254289.1:p.Thr905=
XM_005254234.3:c.2715G>A (FAN1) XP_005254291.1:p.Thr905=
XM_005254235.3:c.2715G>A (FAN1) XP_005254292.1:p.Thr905=
XM_011521370.1:c.1533G>A (FAN1) XP_011519672.1:p.Thr511=
XM_011521371.1:c.1530G>A (FAN1) XP_011519673.1:p.Thr510=
XM_011521736.1:c.1549-515C>T (MTMR10) XP_011520038.1:n.1549-515C>T
XM_011521737.1:c.1549-9402C>T (MTMR10) XP_011520039.1:n.1549-9402C>T
XM_005254232.4:c.2715G>A (FAN1) XP_005254289.1:p.Thr905=
XM_005254234.5:c.2715G>A (FAN1) XP_005254291.1:p.Thr905=
XM_011521370.2:c.1533G>A (FAN1) XP_011519672.1:p.Thr511=
XM_011521737.3:c.1549-9402C>T (MTMR10) XP_011520039.1:n.1549-9402C>T
XM_017022012.2:c.1044G>A (FAN1) XP_016877501.1:p.Thr348=
XM_017022013.1:c.1044G>A (FAN1) XP_016877502.1:p.Thr348=
XM_024449874.1:c.1530G>A (FAN1) XP_024305642.1:p.Thr510=
XR_001751149.1:n.4959G>A (FAN1)
XR_001751151.1:n.4955G>A (FAN1)
NM_014967.5:c.2715G>A (FAN1) MANE Select NP_055782.3:p.Thr905=