Canonical Allele Identifier: CA267473775
Community Standard Title: NM_014967.5(FAN1):c.2338-200C>G

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.30925589C>G , CM000677.2:g.30925589C>G GRCh38
NC_000015.9:g.31217792C>G , CM000677.1:g.31217792C>G GRCh37
NC_000015.8:g.29005084C>G NCBI36
NG_032946.1:g.26738C>G
NG_032946.2:g.26738C>G

Transcript Alleles

HGVS Amino-acid Change
NM_014967.5:c.2338-200C>G (FAN1) MANE Select NP_055782.3:n.2338-200C>G
ENST00000362065.9:c.2338-200C>G (FAN1) MANE Select ENSP00000354497.4:n.2338-200C>G
NM_014967.4:c.2338-200C>G (FAN1) NP_055782.3:n.2338-200C>G
ENST00000362065.8:c.2338-200C>G (FAN1) ENSP00000354497.4:n.2338-200C>G
ENST00000562881.2:n.1106C>G (FAN1)
ENST00000565280.5:c.*1179-200C>G (FAN1) ENSP00000455573.1:n.*1179-200C>G
ENST00000568145.5:n.290-200C>G (FAN1)
ENST00000568145.6:n.1214-200C>G (FAN1)
ENST00000602886.2:n.2515-200C>G (FAN1)
ENST00000654056.1:c.*182-200C>G (FAN1) ENSP00000499726.1:n.*182-200C>G
ENST00000655421.1:n.2906C>G (FAN1)
ENST00000656307.1:n.2590-200C>G (FAN1)
ENST00000656435.1:c.2338-200C>G (FAN1) ENSP00000499534.1:n.2338-200C>G
ENST00000657391.1:c.2338-200C>G (FAN1) ENSP00000499703.1:n.2338-200C>G
ENST00000661974.1:c.1630-200C>G (FAN1)
ENST00000664070.1:c.*1878-200C>G (FAN1) ENSP00000499478.1:n.*1878-200C>G
ENST00000664837.1:c.1048-200C>G (FAN1) ENSP00000499780.1:n.1048-200C>G
ENST00000667837.1:n.2150-200C>G (FAN1)
ENST00000670074.1:c.*1080-200C>G (FAN1) ENSP00000499252.1:n.*1080-200C>G
ENST00000670849.1:c.2338-200C>G (FAN1) ENSP00000499638.1:n.2338-200C>G
XM_005254232.3:c.2338-200C>G (FAN1) XP_005254289.1:n.2338-200C>G
XM_005254232.4:c.2338-200C>G (FAN1) XP_005254289.1:n.2338-200C>G
XM_005254234.3:c.2338-200C>G (FAN1) XP_005254291.1:n.2338-200C>G
XM_005254234.5:c.2338-200C>G (FAN1) XP_005254291.1:n.2338-200C>G
XM_005254235.3:c.2338-200C>G (FAN1) XP_005254292.1:n.2338-200C>G
XM_005254236.2:c.2338-200C>G (FAN1) XP_005254293.1:n.2338-200C>G
XM_011521370.1:c.1156-200C>G (FAN1) XP_011519672.1:n.1156-200C>G
XM_011521370.2:c.1156-200C>G (FAN1) XP_011519672.1:n.1156-200C>G
XM_011521371.1:c.1153-200C>G (FAN1) XP_011519673.1:n.1153-200C>G
XM_011521737.1:c.1549-5666G>C (MTMR10) XP_011520039.1:n.1549-5666G>C
XM_011521737.3:c.1549-5666G>C (MTMR10) XP_011520039.1:n.1549-5666G>C
XM_017022012.2:c.667-200C>G (FAN1) XP_016877501.1:n.667-200C>G
XM_017022013.1:c.667-200C>G (FAN1) XP_016877502.1:n.667-200C>G
XM_024449874.1:c.1153-200C>G (FAN1) XP_024305642.1:n.1153-200C>G
XR_001751149.1:n.2637-200C>G (FAN1)
XR_001751151.1:n.2633-200C>G (FAN1)