Canonical Allele Identifier: CA2690791787

Linked Data

gnomAD v4: 9-95149771-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.95149771A>T , CM000671.2:g.95149771A>T GRCh38
NC_000009.11:g.97912053A>T , CM000671.1:g.97912053A>T GRCh37
NC_000009.10:g.96951874A>T NCBI36
NG_011707.1:g.172939T>A , LRG_497:g.172939T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000710812.1:n.2971A>T (AOPEP)
ENST00000696261.1:n.1077+152T>A (FANCC)
ENST00000289081.8:c.686+152T>A (FANCC) MANE Select ENSP00000289081.3:n.686+152T>A
ENST00000375305.6:c.686+152T>A (FANCC) ENSP00000364454.1:n.686+152T>A
ENST00000490972.7:c.686+152T>A (FANCC) ENSP00000479931.1:n.686+152T>A
ENST00000649334.1:c.831+152T>A (FANCC) ENSP00000497735.1:n.831+152T>A
ENST00000649701.1:n.401+152T>A (FANCC)
ENST00000289081.7:c.686+152T>A (FANCC) ENSP00000289081.3:n.686+152T>A
ENST00000375305.5:c.686+152T>A (FANCC) ENSP00000364454.1:n.686+152T>A
ENST00000490972.6:c.686+152T>A (FANCC) ENSP00000479931.1:n.686+152T>A
ENST00000493098.1:n.111+152T>A (FANCC)
NM_000136.2:c.686+152T>A , LRG_497t1:c.686+152T>A (FANCC) NP_000127.2:n.686+152T>A
NM_001243743.1:c.686+152T>A (FANCC) NP_001230672.1:n.686+152T>A
NM_001243744.1:c.686+152T>A (FANCC) NP_001230673.1:n.686+152T>A
XM_006717001.1:c.522-14269T>A (FANCC) XP_006717064.1:n.522-14269T>A
XM_006717002.2:c.686+152T>A (FANCC) XP_006717065.1:n.686+152T>A
XM_006717004.2:c.686+152T>A (FANCC) XP_006717067.1:n.686+152T>A
XM_011518365.1:c.686+152T>A (FANCC) XP_011516667.1:n.686+152T>A
XM_011518366.1:c.686+152T>A (FANCC) XP_011516668.1:n.686+152T>A
XM_011518367.1:c.230+152T>A (FANCC) XP_011516669.1:n.230+152T>A
XM_006717001.3:c.522-14269T>A (FANCC) XP_006717064.1:n.522-14269T>A
XM_006717002.4:c.686+152T>A (FANCC) XP_006717065.1:n.686+152T>A
XM_006717004.4:c.686+152T>A (FANCC) XP_006717067.1:n.686+152T>A
XM_011518365.3:c.686+152T>A (FANCC) XP_011516667.1:n.686+152T>A
XM_011518366.3:c.686+152T>A (FANCC) XP_011516668.1:n.686+152T>A
XM_011518367.2:c.230+152T>A (FANCC) XP_011516669.1:n.230+152T>A
XM_017014452.2:c.230+152T>A (FANCC) XP_016869941.1:n.230+152T>A
XM_017014453.1:c.230+152T>A (FANCC) XP_016869942.1:n.230+152T>A
XM_017014454.1:c.66-14269T>A (FANCC) XP_016869943.1:n.66-14269T>A
XM_024447451.1:c.686+152T>A (FANCC) XP_024303219.1:n.686+152T>A
NM_000136.3:c.686+152T>A (FANCC) MANE Select NP_000127.2:n.686+152T>A
NM_001243743.2:c.686+152T>A (FANCC) NP_001230672.1:n.686+152T>A
NM_001243744.2:c.686+152T>A (FANCC) NP_001230673.1:n.686+152T>A