Canonical Allele Identifier: CA16041350
Gene: FANCC HGNC NCBI

Linked Data

ClinVar Variation Id: 370299
ClinVar RCV Id: RCV000412276
dbSNP Id: rs1057516384
MyVariant Identifiers: chr9:g.98002969G>A (hg19) chr9:g.95240687G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.95240687G>A , CM000671.2:g.95240687G>A GRCh38
NC_000009.11:g.98002969G>A , CM000671.1:g.98002969G>A GRCh37
NC_000009.10:g.97042790G>A NCBI36
NG_011707.1:g.82023C>T , LRG_497:g.82023C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000696261.1:n.553C>T
ENST00000696262.1:c.307C>T ENSP00000512510.1:p.Gln103Ter
ENST00000289081.8:c.307C>T MANE Select ENSP00000289081.3:p.Gln103Ter
ENST00000375305.6:c.307C>T ENSP00000364454.1:p.Gln103Ter
ENST00000490972.7:c.307C>T ENSP00000479931.1:p.Gln103Ter
ENST00000636777.1:n.365C>T
ENST00000647778.1:c.307C>T ENSP00000498125.1:p.Gln103Ter
ENST00000647882.1:c.307C>T ENSP00000497025.1:p.Gln103Ter
ENST00000648415.1:n.1945C>T
ENST00000649334.1:c.307C>T ENSP00000497735.1:p.Gln103Ter
ENST00000649519.1:c.307C>T ENSP00000497630.1:p.Gln103Ter
ENST00000649701.1:n.22C>T
ENST00000649872.1:c.307C>T ENSP00000497195.1:p.Gln103Ter
ENST00000650176.1:n.487C>T
ENST00000289081.7:c.307C>T ENSP00000289081.3:p.Gln103Ter
ENST00000375305.5:c.307C>T ENSP00000364454.1:p.Gln103Ter
ENST00000433829.1:c.307C>T ENSP00000406908.1:p.Gln103Ter
ENST00000474949.1:n.569C>T
ENST00000490972.6:c.307C>T ENSP00000479931.1:p.Gln103Ter
NM_000136.2:c.307C>T , LRG_497t1:c.307C>T NP_000127.2:p.Gln103Ter
NM_001243743.1:c.307C>T NP_001230672.1:p.Gln103Ter
NM_001243744.1:c.307C>T NP_001230673.1:p.Gln103Ter
XM_006717001.1:c.307C>T XP_006717064.1:p.Gln103Ter
XM_006717002.2:c.307C>T XP_006717065.1:p.Gln103Ter
XM_006717004.2:c.307C>T XP_006717067.1:p.Gln103Ter
XM_011518365.1:c.307C>T XP_011516667.1:p.Gln103Ter
XM_011518366.1:c.307C>T XP_011516668.1:p.Gln103Ter
XM_011518367.1:c.-295C>T XP_011516669.1:n.-295C>T
XM_006717001.3:c.307C>T XP_006717064.1:p.Gln103Ter
XM_006717002.4:c.307C>T XP_006717065.1:p.Gln103Ter
XM_006717004.4:c.307C>T XP_006717067.1:p.Gln103Ter
XM_011518365.3:c.307C>T XP_011516667.1:p.Gln103Ter
XM_011518366.3:c.307C>T XP_011516668.1:p.Gln103Ter
XM_011518367.2:c.-295C>T XP_011516669.1:n.-295C>T
XM_017014452.2:c.-295C>T XP_016869941.1:n.-295C>T
XM_017014453.1:c.-295C>T XP_016869942.1:n.-295C>T
XM_017014454.1:c.-295C>T XP_016869943.1:n.-295C>T
XM_024447451.1:c.307C>T XP_024303219.1:p.Gln103Ter
NM_000136.3:c.307C>T MANE Select NP_000127.2:p.Gln103Ter
NM_001243743.2:c.307C>T NP_001230672.1:p.Gln103Ter
NM_001243744.2:c.307C>T NP_001230673.1:p.Gln103Ter
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