Canonical Allele Identifier: CA287219
Gene: FANCC HGNC NCBI

Linked Data

ClinVar Variation Id: 12045
dbSNP Id: rs104886456
gnomAD v2: 9-97934315-T-A
gnomAD v3: 9-95172033-T-A
gnomAD v4: 9-95172033-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.95172033T>A , CM000671.2:g.95172033T>A GRCh38
NC_000009.11:g.97934315T>A , CM000671.1:g.97934315T>A GRCh37
NC_000009.10:g.96974136T>A NCBI36
NG_011707.1:g.150677A>T , LRG_497:g.150677A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000696261.1:n.847+4A>T
ENST00000289081.8:c.456+4A>T MANE Select ENSP00000289081.3:n.456+4A>T
ENST00000375305.6:c.456+4A>T ENSP00000364454.1:n.456+4A>T
ENST00000490972.7:c.456+4A>T ENSP00000479931.1:n.456+4A>T
ENST00000636777.1:n.514+4A>T
ENST00000647778.1:c.456+4A>T ENSP00000498125.1:n.456+4A>T
ENST00000649334.1:c.601+4A>T ENSP00000497735.1:n.601+4A>T
ENST00000649701.1:n.171+4A>T
ENST00000289081.7:c.456+4A>T ENSP00000289081.3:n.456+4A>T
ENST00000375305.5:c.456+4A>T ENSP00000364454.1:n.456+4A>T
ENST00000474949.1:n.813+4A>T
ENST00000490972.6:c.456+4A>T ENSP00000479931.1:n.456+4A>T
NM_000136.2:c.456+4A>T , LRG_497t1:c.456+4A>T NP_000127.2:n.456+4A>T
NM_001243743.1:c.456+4A>T NP_001230672.1:n.456+4A>T
NM_001243744.1:c.456+4A>T NP_001230673.1:n.456+4A>T
XM_006717001.1:c.456+4A>T XP_006717064.1:n.456+4A>T
XM_006717002.2:c.456+4A>T XP_006717065.1:n.456+4A>T
XM_006717004.2:c.456+4A>T XP_006717067.1:n.456+4A>T
XM_011518365.1:c.456+4A>T XP_011516667.1:n.456+4A>T
XM_011518366.1:c.456+4A>T XP_011516668.1:n.456+4A>T
XM_011518367.1:c.-1+4A>T XP_011516669.1:n.-1+4A>T
XM_006717001.3:c.456+4A>T XP_006717064.1:n.456+4A>T
XM_006717002.4:c.456+4A>T XP_006717065.1:n.456+4A>T
XM_006717004.4:c.456+4A>T XP_006717067.1:n.456+4A>T
XM_011518365.3:c.456+4A>T XP_011516667.1:n.456+4A>T
XM_011518366.3:c.456+4A>T XP_011516668.1:n.456+4A>T
XM_011518367.2:c.-1+4A>T XP_011516669.1:n.-1+4A>T
XM_017014452.2:c.-1+4A>T XP_016869941.1:n.-1+4A>T
XM_017014453.1:c.-1+4A>T XP_016869942.1:n.-1+4A>T
XM_017014454.1:c.-1+4A>T XP_016869943.1:n.-1+4A>T
XM_024447451.1:c.456+4A>T XP_024303219.1:n.456+4A>T
NM_000136.3:c.456+4A>T MANE Select NP_000127.2:n.456+4A>T
NM_001243743.2:c.456+4A>T NP_001230672.1:n.456+4A>T
NM_001243744.2:c.456+4A>T NP_001230673.1:n.456+4A>T