Canonical Allele Identifier: CA7450690

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.30928647C>T , CM000677.2:g.30928647C>T GRCh38
NC_000015.9:g.31220850C>T , CM000677.1:g.31220850C>T GRCh37
NC_000015.8:g.29008142C>T NCBI36
NG_032946.1:g.29796C>T
NG_032946.2:g.29796C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000362065.9:c.2583C>T (FAN1) MANE Select ENSP00000354497.4:p.Asn861=
ENST00000562881.2:n.4164C>T (FAN1)
ENST00000654056.1:c.*427C>T (FAN1) ENSP00000499726.1:n.*427C>T
ENST00000655421.1:n.5964C>T (FAN1)
ENST00000656307.1:n.5448C>T (FAN1)
ENST00000656435.1:c.2583C>T (FAN1) ENSP00000499534.1:p.Asn861=
ENST00000657391.1:c.2583C>T (FAN1) ENSP00000499703.1:p.Asn861=
ENST00000661974.1:c.4488C>T (FAN1)
ENST00000664070.1:c.*2123C>T (FAN1) ENSP00000499478.1:n.*2123C>T
ENST00000664837.1:c.1293C>T (FAN1) ENSP00000499780.1:p.Asn431=
ENST00000667837.1:n.2395C>T (FAN1)
ENST00000670074.1:c.*1325C>T (FAN1) ENSP00000499252.1:n.*1325C>T
ENST00000670849.1:c.2583C>T (FAN1) ENSP00000499638.1:p.Asn861=
ENST00000362065.8:c.2583C>T (FAN1) ENSP00000354497.4:p.Asn861=
ENST00000562881.1:n.224C>T (FAN1)
ENST00000565280.5:c.*1424C>T (FAN1) ENSP00000455573.1:n.*1424C>T
ENST00000568145.5:n.535C>T (FAN1)
NM_014967.4:c.2583C>T (FAN1) NP_055782.3:p.Asn861=
XM_005254232.3:c.2583C>T (FAN1) XP_005254289.1:p.Asn861=
XM_005254234.3:c.2583C>T (FAN1) XP_005254291.1:p.Asn861=
XM_005254235.3:c.2583C>T (FAN1) XP_005254292.1:p.Asn861=
XM_011521370.1:c.1401C>T (FAN1) XP_011519672.1:p.Asn467=
XM_011521371.1:c.1398C>T (FAN1) XP_011519673.1:p.Asn466=
XM_011521736.1:c.*62G>A (MTMR10) XP_011520038.1:n.*62G>A
XM_011521737.1:c.1549-8724G>A (MTMR10) XP_011520039.1:n.1549-8724G>A
XM_005254232.4:c.2583C>T (FAN1) XP_005254289.1:p.Asn861=
XM_005254234.5:c.2583C>T (FAN1) XP_005254291.1:p.Asn861=
XM_011521370.2:c.1401C>T (FAN1) XP_011519672.1:p.Asn467=
XM_011521737.3:c.1549-8724G>A (MTMR10) XP_011520039.1:n.1549-8724G>A
XM_017022012.2:c.912C>T (FAN1) XP_016877501.1:p.Asn304=
XM_017022013.1:c.912C>T (FAN1) XP_016877502.1:p.Asn304=
XM_024449874.1:c.1398C>T (FAN1) XP_024305642.1:p.Asn466=
XR_001751149.1:n.4827C>T (FAN1)
XR_001751151.1:n.4823C>T (FAN1)
NM_014967.5:c.2583C>T (FAN1) MANE Select NP_055782.3:p.Asn861=