Canonical Allele Identifier: CA7450607

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.30925864G>A , CM000677.2:g.30925864G>A GRCh38
NC_000015.9:g.31218067G>A , CM000677.1:g.31218067G>A GRCh37
NC_000015.8:g.29005359G>A NCBI36
NG_032946.1:g.27013G>A
NG_032946.2:g.27013G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000362065.9:c.2413G>A (FAN1) MANE Select ENSP00000354497.4:p.Ala805Thr
ENST00000562881.2:n.1381G>A (FAN1)
ENST00000568145.6:n.1289G>A (FAN1)
ENST00000602886.2:n.2590G>A (FAN1)
ENST00000654056.1:c.*257G>A (FAN1) ENSP00000499726.1:n.*257G>A
ENST00000655421.1:n.3181G>A (FAN1)
ENST00000656307.1:n.2665G>A (FAN1)
ENST00000656435.1:c.2413G>A (FAN1) ENSP00000499534.1:p.Ala805Thr
ENST00000657391.1:c.2413G>A (FAN1) ENSP00000499703.1:p.Ala805Thr
ENST00000661974.1:c.1705G>A (FAN1)
ENST00000664070.1:c.*1953G>A (FAN1) ENSP00000499478.1:n.*1953G>A
ENST00000664837.1:c.1123G>A (FAN1) ENSP00000499780.1:p.Ala375Thr
ENST00000667837.1:n.2225G>A (FAN1)
ENST00000670074.1:c.*1155G>A (FAN1) ENSP00000499252.1:n.*1155G>A
ENST00000670849.1:c.2413G>A (FAN1) ENSP00000499638.1:p.Ala805Thr
ENST00000362065.8:c.2413G>A (FAN1) ENSP00000354497.4:p.Ala805Thr
ENST00000565280.5:c.*1254G>A (FAN1) ENSP00000455573.1:n.*1254G>A
ENST00000568145.5:n.365G>A (FAN1)
NM_014967.4:c.2413G>A (FAN1) NP_055782.3:p.Ala805Thr
XM_005254232.3:c.2413G>A (FAN1) XP_005254289.1:p.Ala805Thr
XM_005254234.3:c.2413G>A (FAN1) XP_005254291.1:p.Ala805Thr
XM_005254235.3:c.2413G>A (FAN1) XP_005254292.1:p.Ala805Thr
XM_005254236.2:c.2413G>A (FAN1) XP_005254293.1:p.Ala805Thr
XM_011521370.1:c.1231G>A (FAN1) XP_011519672.1:p.Ala411Thr
XM_011521371.1:c.1228G>A (FAN1) XP_011519673.1:p.Ala410Thr
XM_011521737.1:c.1549-5941C>T (MTMR10) XP_011520039.1:n.1549-5941C>T
XM_005254232.4:c.2413G>A (FAN1) XP_005254289.1:p.Ala805Thr
XM_005254234.5:c.2413G>A (FAN1) XP_005254291.1:p.Ala805Thr
XM_011521370.2:c.1231G>A (FAN1) XP_011519672.1:p.Ala411Thr
XM_011521737.3:c.1549-5941C>T (MTMR10) XP_011520039.1:n.1549-5941C>T
XM_017022012.2:c.742G>A (FAN1) XP_016877501.1:p.Ala248Thr
XM_017022013.1:c.742G>A (FAN1) XP_016877502.1:p.Ala248Thr
XM_024449874.1:c.1228G>A (FAN1) XP_024305642.1:p.Ala410Thr
XR_001751149.1:n.2712G>A (FAN1)
XR_001751151.1:n.2708G>A (FAN1)
NM_014967.5:c.2413G>A (FAN1) MANE Select NP_055782.3:p.Ala805Thr