Canonical Allele Identifier: CA7450606

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.30925863C>T , CM000677.2:g.30925863C>T GRCh38
NC_000015.9:g.31218066C>T , CM000677.1:g.31218066C>T GRCh37
NC_000015.8:g.29005358C>T NCBI36
NG_032946.1:g.27012C>T
NG_032946.2:g.27012C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000362065.9:c.2412C>T (FAN1) MANE Select ENSP00000354497.4:p.Ala804=
ENST00000562881.2:n.1380C>T (FAN1)
ENST00000568145.6:n.1288C>T (FAN1)
ENST00000602886.2:n.2589C>T (FAN1)
ENST00000654056.1:c.*256C>T (FAN1) ENSP00000499726.1:n.*256C>T
ENST00000655421.1:n.3180C>T (FAN1)
ENST00000656307.1:n.2664C>T (FAN1)
ENST00000656435.1:c.2412C>T (FAN1) ENSP00000499534.1:p.Ala804=
ENST00000657391.1:c.2412C>T (FAN1) ENSP00000499703.1:p.Ala804=
ENST00000661974.1:c.1704C>T (FAN1)
ENST00000664070.1:c.*1952C>T (FAN1) ENSP00000499478.1:n.*1952C>T
ENST00000664837.1:c.1122C>T (FAN1) ENSP00000499780.1:p.Ala374=
ENST00000667837.1:n.2224C>T (FAN1)
ENST00000670074.1:c.*1154C>T (FAN1) ENSP00000499252.1:n.*1154C>T
ENST00000670849.1:c.2412C>T (FAN1) ENSP00000499638.1:p.Ala804=
ENST00000362065.8:c.2412C>T (FAN1) ENSP00000354497.4:p.Ala804=
ENST00000565280.5:c.*1253C>T (FAN1) ENSP00000455573.1:n.*1253C>T
ENST00000568145.5:n.364C>T (FAN1)
NM_014967.4:c.2412C>T (FAN1) NP_055782.3:p.Ala804=
XM_005254232.3:c.2412C>T (FAN1) XP_005254289.1:p.Ala804=
XM_005254234.3:c.2412C>T (FAN1) XP_005254291.1:p.Ala804=
XM_005254235.3:c.2412C>T (FAN1) XP_005254292.1:p.Ala804=
XM_005254236.2:c.2412C>T (FAN1) XP_005254293.1:p.Ala804=
XM_011521370.1:c.1230C>T (FAN1) XP_011519672.1:p.Ala410=
XM_011521371.1:c.1227C>T (FAN1) XP_011519673.1:p.Ala409=
XM_011521737.1:c.1549-5940G>A (MTMR10) XP_011520039.1:n.1549-5940G>A
XM_005254232.4:c.2412C>T (FAN1) XP_005254289.1:p.Ala804=
XM_005254234.5:c.2412C>T (FAN1) XP_005254291.1:p.Ala804=
XM_011521370.2:c.1230C>T (FAN1) XP_011519672.1:p.Ala410=
XM_011521737.3:c.1549-5940G>A (MTMR10) XP_011520039.1:n.1549-5940G>A
XM_017022012.2:c.741C>T (FAN1) XP_016877501.1:p.Ala247=
XM_017022013.1:c.741C>T (FAN1) XP_016877502.1:p.Ala247=
XM_024449874.1:c.1227C>T (FAN1) XP_024305642.1:p.Ala409=
XR_001751149.1:n.2711C>T (FAN1)
XR_001751151.1:n.2707C>T (FAN1)
NM_014967.5:c.2412C>T (FAN1) MANE Select NP_055782.3:p.Ala804=