Canonical Allele Identifier: CA7450556

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.30925225G>A , CM000677.2:g.30925225G>A GRCh38
NC_000015.9:g.31217428G>A , CM000677.1:g.31217428G>A GRCh37
NC_000015.8:g.29004720G>A NCBI36
NG_032946.1:g.26374G>A
NG_032946.2:g.26374G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000362065.9:c.2271G>A (FAN1) MANE Select ENSP00000354497.4:p.Pro757=
ENST00000562881.2:n.742G>A (FAN1)
ENST00000568145.6:n.1147G>A (FAN1)
ENST00000602886.2:n.2448G>A (FAN1)
ENST00000654056.1:c.*115G>A (FAN1) ENSP00000499726.1:n.*115G>A
ENST00000655421.1:n.2542G>A (FAN1)
ENST00000656307.1:n.2523G>A (FAN1)
ENST00000656435.1:c.2271G>A (FAN1) ENSP00000499534.1:p.Pro757=
ENST00000657391.1:c.2271G>A (FAN1) ENSP00000499703.1:p.Pro757=
ENST00000661974.1:c.1563G>A (FAN1)
ENST00000664070.1:c.*1811G>A (FAN1) ENSP00000499478.1:n.*1811G>A
ENST00000664837.1:c.981G>A (FAN1) ENSP00000499780.1:p.Pro327=
ENST00000667837.1:n.2083G>A (FAN1)
ENST00000670074.1:c.*1013G>A (FAN1) ENSP00000499252.1:n.*1013G>A
ENST00000670849.1:c.2271G>A (FAN1) ENSP00000499638.1:p.Pro757=
ENST00000362065.8:c.2271G>A (FAN1) ENSP00000354497.4:p.Pro757=
ENST00000565280.5:c.*1112G>A (FAN1) ENSP00000455573.1:n.*1112G>A
ENST00000568145.5:n.223G>A (FAN1)
NM_014967.4:c.2271G>A (FAN1) NP_055782.3:p.Pro757=
XM_005254232.3:c.2271G>A (FAN1) XP_005254289.1:p.Pro757=
XM_005254234.3:c.2271G>A (FAN1) XP_005254291.1:p.Pro757=
XM_005254235.3:c.2271G>A (FAN1) XP_005254292.1:p.Pro757=
XM_005254236.2:c.2271G>A (FAN1) XP_005254293.1:p.Pro757=
XM_011521370.1:c.1089G>A (FAN1) XP_011519672.1:p.Pro363=
XM_011521371.1:c.1086G>A (FAN1) XP_011519673.1:p.Pro362=
XM_011521737.1:c.1549-5302C>T (MTMR10) XP_011520039.1:n.1549-5302C>T
XM_005254232.4:c.2271G>A (FAN1) XP_005254289.1:p.Pro757=
XM_005254234.5:c.2271G>A (FAN1) XP_005254291.1:p.Pro757=
XM_011521370.2:c.1089G>A (FAN1) XP_011519672.1:p.Pro363=
XM_011521737.3:c.1549-5302C>T (MTMR10) XP_011520039.1:n.1549-5302C>T
XM_017022012.2:c.600G>A (FAN1) XP_016877501.1:p.Pro200=
XM_017022013.1:c.600G>A (FAN1) XP_016877502.1:p.Pro200=
XM_024449874.1:c.1086G>A (FAN1) XP_024305642.1:p.Pro362=
XR_001751149.1:n.2570G>A (FAN1)
XR_001751151.1:n.2566G>A (FAN1)
NM_014967.5:c.2271G>A (FAN1) MANE Select NP_055782.3:p.Pro757=