Canonical Allele Identifier: CA16041340
Gene: FANCC HGNC NCBI
C9orf3 HGNC NCBI

Linked Data

ClinVar Variation Id: 370350

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.95111483G>A , CM000671.2:g.95111483G>A GRCh38
NC_000009.11:g.97873765G>A , CM000671.1:g.97873765G>A GRCh37
NC_000009.10:g.96913586G>A NCBI36
NG_011707.1:g.211227C>T , LRG_497:g.211227C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000289081.8:c.1309C>T (FANCC) MANE Select ENSP00000289081.3:p.Gln437Ter
ENST00000375305.6:c.1309C>T ENSP00000364454.1:p.Gln437Ter
ENST00000490972.7:c.1309C>T ENSP00000479931.1:p.Gln437Ter
ENST00000649334.1:n.1454C>T ENSP00000497735.1:p.=
ENST00000289081.7:c.1309C>T ENSP00000289081.3:p.Gln437Ter
ENST00000375305.5:c.1309C>T ENSP00000364454.1:p.Gln437Ter
ENST00000464627.5:n.636C>T
ENST00000477942.5:n.664C>T
ENST00000480712.5:n.494C>T
ENST00000490972.6:c.1309C>T ENSP00000479931.1:p.Gln437Ter
NM_000136.2:c.1309C>T , LRG_497t1:c.1309C>T (FANCC) NP_000127.2:p.Gln437Ter
NM_001243743.1:c.1309C>T (FANCC) NP_001230672.1:p.Gln437Ter
NM_001243744.1:c.1309C>T (FANCC) NP_001230673.1:p.Gln437Ter
XM_005251802.2:c.628C>T (FANCC) XP_005251859.1:p.Gln210Ter
XM_006717001.1:c.1144C>T (FANCC) XP_006717064.1:p.Gln382Ter
XM_006717002.2:c.1309C>T (FANCC) XP_006717065.1:p.Gln437Ter
XM_011518365.1:c.1309C>T (FANCC) XP_011516667.1:p.Gln437Ter
XM_011518366.1:c.1309C>T (FANCC) XP_011516668.1:p.Gln437Ter
XM_011518367.1:c.853C>T (FANCC) XP_011516669.1:p.Gln285Ter
XM_011519121.1:c.2319+30703G>A (C9orf3) XP_011517423.1:p.=
XM_005251802.3:c.628C>T (FANCC) XP_005251859.1:p.Gln210Ter
XM_006717001.3:c.1144C>T (FANCC) XP_006717064.1:p.Gln382Ter
XM_006717002.4:c.1309C>T (FANCC) XP_006717065.1:p.Gln437Ter
XM_011518365.3:c.1309C>T (FANCC) XP_011516667.1:p.Gln437Ter
XM_011518366.3:c.1309C>T (FANCC) XP_011516668.1:p.Gln437Ter
XM_011518367.2:c.853C>T (FANCC) XP_011516669.1:p.Gln285Ter
XM_011519121.3:c.2319+30703G>A (C9orf3) XP_011517423.1:p.=
XM_017014452.2:c.853C>T (FANCC) XP_016869941.1:p.Gln285Ter
XM_017014453.1:c.853C>T (FANCC) XP_016869942.1:p.Gln285Ter
XM_017014454.1:c.688C>T (FANCC) XP_016869943.1:p.Gln230Ter
XM_024447451.1:c.1309C>T (FANCC) XP_024303219.1:p.Gln437Ter
NM_000136.3:c.1309C>T (FANCC) MANE Select NP_000127.2:p.Gln437Ter
NM_001243743.2:c.1309C>T (FANCC) NP_001230672.1:p.Gln437Ter
NM_001243744.2:c.1309C>T (FANCC) NP_001230673.1:p.Gln437Ter