Canonical Allele Identifier: CA5137757
Gene: FANCC HGNC NCBI

Linked Data

ClinVar Variation Id: 421810
dbSNP Id: rs781167993
gnomAD v2: 9-97934426-C-T
gnomAD v3: 9-95172144-C-T
gnomAD v4: 9-95172144-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.95172144C>T , CM000671.2:g.95172144C>T GRCh38
NC_000009.11:g.97934426C>T , CM000671.1:g.97934426C>T GRCh37
NC_000009.10:g.96974247C>T NCBI36
NG_011707.1:g.150566G>A , LRG_497:g.150566G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000696261.1:n.740G>A
ENST00000289081.8:c.349G>A MANE Select ENSP00000289081.3:p.Val117Ile
ENST00000375305.6:c.349G>A ENSP00000364454.1:p.Val117Ile
ENST00000490972.7:c.349G>A ENSP00000479931.1:p.Val117Ile
ENST00000636777.1:n.407G>A
ENST00000647778.1:c.349G>A ENSP00000498125.1:p.Val117Ile
ENST00000647882.1:c.349G>A ENSP00000497025.1:p.Val117Ile
ENST00000649334.1:c.494G>A ENSP00000497735.1:n.494G>A
ENST00000649701.1:n.64G>A
ENST00000289081.7:c.349G>A ENSP00000289081.3:p.Val117Ile
ENST00000375305.5:c.349G>A ENSP00000364454.1:p.Val117Ile
ENST00000433829.1:c.349G>A ENSP00000406908.1:p.Val117Ile
ENST00000474949.1:n.706G>A
ENST00000490972.6:c.349G>A ENSP00000479931.1:p.Val117Ile
NM_000136.2:c.349G>A , LRG_497t1:c.349G>A NP_000127.2:p.Val117Ile
NM_001243743.1:c.349G>A NP_001230672.1:p.Val117Ile
NM_001243744.1:c.349G>A NP_001230673.1:p.Val117Ile
XM_006717001.1:c.349G>A XP_006717064.1:p.Val117Ile
XM_006717002.2:c.349G>A XP_006717065.1:p.Val117Ile
XM_006717004.2:c.349G>A XP_006717067.1:p.Val117Ile
XM_011518365.1:c.349G>A XP_011516667.1:p.Val117Ile
XM_011518366.1:c.349G>A XP_011516668.1:p.Val117Ile
XM_011518367.1:c.-108G>A XP_011516669.1:n.-108G>A
XM_006717001.3:c.349G>A XP_006717064.1:p.Val117Ile
XM_006717002.4:c.349G>A XP_006717065.1:p.Val117Ile
XM_006717004.4:c.349G>A XP_006717067.1:p.Val117Ile
XM_011518365.3:c.349G>A XP_011516667.1:p.Val117Ile
XM_011518366.3:c.349G>A XP_011516668.1:p.Val117Ile
XM_011518367.2:c.-108G>A XP_011516669.1:n.-108G>A
XM_017014452.2:c.-108G>A XP_016869941.1:n.-108G>A
XM_017014453.1:c.-108G>A XP_016869942.1:n.-108G>A
XM_017014454.1:c.-108G>A XP_016869943.1:n.-108G>A
XM_024447451.1:c.349G>A XP_024303219.1:p.Val117Ile
NM_000136.3:c.349G>A MANE Select NP_000127.2:p.Val117Ile
NM_001243743.2:c.349G>A NP_001230672.1:p.Val117Ile
NM_001243744.2:c.349G>A NP_001230673.1:p.Val117Ile