Canonical Allele Identifier: CA1865468620

Linked Data

dbSNP Id: rs1830040408
gnomAD v4: 9-95149831-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.95149831G>A , CM000671.2:g.95149831G>A GRCh38
NC_000009.11:g.97912113G>A , CM000671.1:g.97912113G>A GRCh37
NC_000009.10:g.96951934G>A NCBI36
NG_011707.1:g.172879C>T , LRG_497:g.172879C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000710812.1:n.3031G>A (AOPEP)
ENST00000696261.1:n.1077+92C>T (FANCC)
ENST00000289081.8:c.686+92C>T (FANCC) MANE Select ENSP00000289081.3:n.686+92C>T
ENST00000375305.6:c.686+92C>T (FANCC) ENSP00000364454.1:n.686+92C>T
ENST00000490972.7:c.686+92C>T (FANCC) ENSP00000479931.1:n.686+92C>T
ENST00000649334.1:c.831+92C>T (FANCC) ENSP00000497735.1:n.831+92C>T
ENST00000649701.1:n.401+92C>T (FANCC)
ENST00000289081.7:c.686+92C>T (FANCC) ENSP00000289081.3:n.686+92C>T
ENST00000375305.5:c.686+92C>T (FANCC) ENSP00000364454.1:n.686+92C>T
ENST00000490972.6:c.686+92C>T (FANCC) ENSP00000479931.1:n.686+92C>T
ENST00000493098.1:n.111+92C>T (FANCC)
NM_000136.2:c.686+92C>T , LRG_497t1:c.686+92C>T (FANCC) NP_000127.2:n.686+92C>T
NM_001243743.1:c.686+92C>T (FANCC) NP_001230672.1:n.686+92C>T
NM_001243744.1:c.686+92C>T (FANCC) NP_001230673.1:n.686+92C>T
XM_006717001.1:c.522-14329C>T (FANCC) XP_006717064.1:n.522-14329C>T
XM_006717002.2:c.686+92C>T (FANCC) XP_006717065.1:n.686+92C>T
XM_006717004.2:c.686+92C>T (FANCC) XP_006717067.1:n.686+92C>T
XM_011518365.1:c.686+92C>T (FANCC) XP_011516667.1:n.686+92C>T
XM_011518366.1:c.686+92C>T (FANCC) XP_011516668.1:n.686+92C>T
XM_011518367.1:c.230+92C>T (FANCC) XP_011516669.1:n.230+92C>T
XM_006717001.3:c.522-14329C>T (FANCC) XP_006717064.1:n.522-14329C>T
XM_006717002.4:c.686+92C>T (FANCC) XP_006717065.1:n.686+92C>T
XM_006717004.4:c.686+92C>T (FANCC) XP_006717067.1:n.686+92C>T
XM_011518365.3:c.686+92C>T (FANCC) XP_011516667.1:n.686+92C>T
XM_011518366.3:c.686+92C>T (FANCC) XP_011516668.1:n.686+92C>T
XM_011518367.2:c.230+92C>T (FANCC) XP_011516669.1:n.230+92C>T
XM_017014452.2:c.230+92C>T (FANCC) XP_016869941.1:n.230+92C>T
XM_017014453.1:c.230+92C>T (FANCC) XP_016869942.1:n.230+92C>T
XM_017014454.1:c.66-14329C>T (FANCC) XP_016869943.1:n.66-14329C>T
XM_024447451.1:c.686+92C>T (FANCC) XP_024303219.1:n.686+92C>T
NM_000136.3:c.686+92C>T (FANCC) MANE Select NP_000127.2:n.686+92C>T
NM_001243743.2:c.686+92C>T (FANCC) NP_001230672.1:n.686+92C>T
NM_001243744.2:c.686+92C>T (FANCC) NP_001230673.1:n.686+92C>T