Canonical Allele Identifier: CA7450740

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.30929331T>C , CM000677.2:g.30929331T>C GRCh38
NC_000015.9:g.31221534T>C , CM000677.1:g.31221534T>C GRCh37
NC_000015.8:g.29008826T>C NCBI36
NG_032946.1:g.30480T>C
NG_032946.2:g.30480T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000362065.9:c.2721T>C (FAN1) MANE Select ENSP00000354497.4:p.His907=
ENST00000562881.2:n.4848T>C (FAN1)
ENST00000654056.1:c.*565T>C (FAN1) ENSP00000499726.1:n.*565T>C
ENST00000655421.1:n.6102T>C (FAN1)
ENST00000656307.1:n.5586T>C (FAN1)
ENST00000656435.1:c.2721T>C (FAN1) ENSP00000499534.1:p.His907=
ENST00000657391.1:c.2721T>C (FAN1) ENSP00000499703.1:p.His907=
ENST00000661974.1:c.4626T>C (FAN1)
ENST00000664070.1:c.*2261T>C (FAN1) ENSP00000499478.1:n.*2261T>C
ENST00000664837.1:c.1431T>C (FAN1) ENSP00000499780.1:p.His477=
ENST00000667837.1:n.2533T>C (FAN1)
ENST00000670074.1:c.*1463T>C (FAN1) ENSP00000499252.1:n.*1463T>C
ENST00000670849.1:c.2721T>C (FAN1) ENSP00000499638.1:p.His907=
ENST00000362065.8:c.2721T>C (FAN1) ENSP00000354497.4:p.His907=
ENST00000562881.1:n.362T>C (FAN1)
ENST00000565280.5:c.*1562T>C (FAN1) ENSP00000455573.1:n.*1562T>C
ENST00000568145.5:n.673T>C (FAN1)
NM_014967.4:c.2721T>C (FAN1) NP_055782.3:p.His907=
XM_005254232.3:c.2721T>C (FAN1) XP_005254289.1:p.His907=
XM_005254234.3:c.2721T>C (FAN1) XP_005254291.1:p.His907=
XM_005254235.3:c.2721T>C (FAN1) XP_005254292.1:p.His907=
XM_011521370.1:c.1539T>C (FAN1) XP_011519672.1:p.His513=
XM_011521371.1:c.1536T>C (FAN1) XP_011519673.1:p.His512=
XM_011521736.1:c.1549-521A>G (MTMR10) XP_011520038.1:n.1549-521A>G
XM_011521737.1:c.1549-9408A>G (MTMR10) XP_011520039.1:n.1549-9408A>G
XM_005254232.4:c.2721T>C (FAN1) XP_005254289.1:p.His907=
XM_005254234.5:c.2721T>C (FAN1) XP_005254291.1:p.His907=
XM_011521370.2:c.1539T>C (FAN1) XP_011519672.1:p.His513=
XM_011521737.3:c.1549-9408A>G (MTMR10) XP_011520039.1:n.1549-9408A>G
XM_017022012.2:c.1050T>C (FAN1) XP_016877501.1:p.His350=
XM_017022013.1:c.1050T>C (FAN1) XP_016877502.1:p.His350=
XM_024449874.1:c.1536T>C (FAN1) XP_024305642.1:p.His512=
XR_001751149.1:n.4965T>C (FAN1)
XR_001751151.1:n.4961T>C (FAN1)
NM_014967.5:c.2721T>C (FAN1) MANE Select NP_055782.3:p.His907=