Canonical Allele Identifier: CA374338912
Gene: FANCC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.95172143A>G , CM000671.2:g.95172143A>G GRCh38
NC_000009.11:g.97934425A>G , CM000671.1:g.97934425A>G GRCh37
NC_000009.10:g.96974246A>G NCBI36
NG_011707.1:g.150567T>C , LRG_497:g.150567T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000696261.1:n.741T>C
ENST00000289081.8:c.350T>C MANE Select ENSP00000289081.3:p.Val117Ala
ENST00000375305.6:c.350T>C ENSP00000364454.1:p.Val117Ala
ENST00000490972.7:c.350T>C ENSP00000479931.1:p.Val117Ala
ENST00000636777.1:n.408T>C
ENST00000647778.1:c.350T>C ENSP00000498125.1:p.Val117Ala
ENST00000647882.1:c.350T>C ENSP00000497025.1:p.Val117Ala
ENST00000649334.1:c.495T>C ENSP00000497735.1:n.495T>C
ENST00000649701.1:n.65T>C
ENST00000289081.7:c.350T>C ENSP00000289081.3:p.Val117Ala
ENST00000375305.5:c.350T>C ENSP00000364454.1:p.Val117Ala
ENST00000433829.1:c.350T>C ENSP00000406908.1:p.Val117Ala
ENST00000474949.1:n.707T>C
ENST00000490972.6:c.350T>C ENSP00000479931.1:p.Val117Ala
NM_000136.2:c.350T>C , LRG_497t1:c.350T>C NP_000127.2:p.Val117Ala
NM_001243743.1:c.350T>C NP_001230672.1:p.Val117Ala
NM_001243744.1:c.350T>C NP_001230673.1:p.Val117Ala
XM_006717001.1:c.350T>C XP_006717064.1:p.Val117Ala
XM_006717002.2:c.350T>C XP_006717065.1:p.Val117Ala
XM_006717004.2:c.350T>C XP_006717067.1:p.Val117Ala
XM_011518365.1:c.350T>C XP_011516667.1:p.Val117Ala
XM_011518366.1:c.350T>C XP_011516668.1:p.Val117Ala
XM_011518367.1:c.-107T>C XP_011516669.1:n.-107T>C
XM_006717001.3:c.350T>C XP_006717064.1:p.Val117Ala
XM_006717002.4:c.350T>C XP_006717065.1:p.Val117Ala
XM_006717004.4:c.350T>C XP_006717067.1:p.Val117Ala
XM_011518365.3:c.350T>C XP_011516667.1:p.Val117Ala
XM_011518366.3:c.350T>C XP_011516668.1:p.Val117Ala
XM_011518367.2:c.-107T>C XP_011516669.1:n.-107T>C
XM_017014452.2:c.-107T>C XP_016869941.1:n.-107T>C
XM_017014453.1:c.-107T>C XP_016869942.1:n.-107T>C
XM_017014454.1:c.-107T>C XP_016869943.1:n.-107T>C
XM_024447451.1:c.350T>C XP_024303219.1:p.Val117Ala
NM_000136.3:c.350T>C MANE Select NP_000127.2:p.Val117Ala
NM_001243743.2:c.350T>C NP_001230672.1:p.Val117Ala
NM_001243744.2:c.350T>C NP_001230673.1:p.Val117Ala