Canonical Allele Identifier: CA374340374
Gene: FANCC HGNC NCBI

Linked Data

gnomAD v4: 9-95249209-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.95249209A>G , CM000671.2:g.95249209A>G GRCh38
NC_000009.11:g.98011491A>G , CM000671.1:g.98011491A>G GRCh37
NC_000009.10:g.97051312A>G NCBI36
NG_011707.1:g.73501T>C , LRG_497:g.73501T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000696261.1:n.329T>C
ENST00000696262.1:c.83T>C ENSP00000512510.1:p.Leu28Ser
ENST00000696263.1:n.338T>C
ENST00000289081.8:c.83T>C MANE Select ENSP00000289081.3:p.Leu28Ser
ENST00000375305.6:c.83T>C ENSP00000364454.1:p.Leu28Ser
ENST00000490972.7:c.83T>C ENSP00000479931.1:p.Leu28Ser
ENST00000636777.1:n.141T>C
ENST00000647778.1:c.83T>C ENSP00000498125.1:p.Leu28Ser
ENST00000647882.1:c.83T>C ENSP00000497025.1:p.Leu28Ser
ENST00000648415.1:n.1721T>C
ENST00000649334.1:c.83T>C ENSP00000497735.1:p.Leu28Ser
ENST00000649519.1:c.83T>C ENSP00000497630.1:p.Leu28Ser
ENST00000649611.1:c.83T>C ENSP00000497986.1:p.Leu28Ser
ENST00000649872.1:c.83T>C ENSP00000497195.1:p.Leu28Ser
ENST00000650176.1:n.263T>C
ENST00000289081.7:c.83T>C ENSP00000289081.3:p.Leu28Ser
ENST00000375305.5:c.83T>C ENSP00000364454.1:p.Leu28Ser
ENST00000433829.1:c.83T>C ENSP00000406908.1:p.Leu28Ser
ENST00000474949.1:n.345T>C
ENST00000490972.6:c.83T>C ENSP00000479931.1:p.Leu28Ser
NM_000136.2:c.83T>C , LRG_497t1:c.83T>C NP_000127.2:p.Leu28Ser
NM_001243743.1:c.83T>C NP_001230672.1:p.Leu28Ser
NM_001243744.1:c.83T>C NP_001230673.1:p.Leu28Ser
XM_006717001.1:c.83T>C XP_006717064.1:p.Leu28Ser
XM_006717002.2:c.83T>C XP_006717065.1:p.Leu28Ser
XM_006717004.2:c.83T>C XP_006717067.1:p.Leu28Ser
XM_011518365.1:c.83T>C XP_011516667.1:p.Leu28Ser
XM_011518366.1:c.83T>C XP_011516668.1:p.Leu28Ser
XM_011518367.1:c.-519T>C XP_011516669.1:n.-519T>C
XM_006717001.3:c.83T>C XP_006717064.1:p.Leu28Ser
XM_006717002.4:c.83T>C XP_006717065.1:p.Leu28Ser
XM_006717004.4:c.83T>C XP_006717067.1:p.Leu28Ser
XM_011518365.3:c.83T>C XP_011516667.1:p.Leu28Ser
XM_011518366.3:c.83T>C XP_011516668.1:p.Leu28Ser
XM_011518367.2:c.-519T>C XP_011516669.1:n.-519T>C
XM_017014452.2:c.-519T>C XP_016869941.1:n.-519T>C
XM_017014453.1:c.-519T>C XP_016869942.1:n.-519T>C
XM_017014454.1:c.-519T>C XP_016869943.1:n.-519T>C
XM_024447451.1:c.83T>C XP_024303219.1:p.Leu28Ser
NM_000136.3:c.83T>C MANE Select NP_000127.2:p.Leu28Ser
NM_001243743.2:c.83T>C NP_001230672.1:p.Leu28Ser
NM_001243744.2:c.83T>C NP_001230673.1:p.Leu28Ser