Canonical Allele Identifier: CA16605749

Gene: FANCC

Linked Data

• ClinVar Variation Id: 381649
• ClinVar RCV Id: RCV001276464 ; RCV002450986 ; RCV001720108 ; RCV003766236
• dbSNP Id: rs1057521125
• gnomAD v2: 9-98002940-G-A
• gnomAD v4: 9-95240658-G-A
• MyVariant Identifiers: chr9:g.98002940G>A (hg19) ; chr9:g.95240658G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95240658G>A , CM000671.2:g.95240658G>A	GRCh38
NC_000009.11:g.98002940G>A , CM000671.1:g.98002940G>A	GRCh37
NC_000009.10:g.97042761G>A	NCBI36
NG_011707.1:g.82052C>T , LRG_497:g.82052C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696261.1:n.582C>T
ENST00000696262.1:c.336C>T	ENSP00000512510.1:p.Ser112=
ENST00000289081.8:c.336C>T MANE Select	ENSP00000289081.3:p.Ser112=
ENST00000375305.6:c.336C>T	ENSP00000364454.1:p.Ser112=
ENST00000490972.7:c.336C>T	ENSP00000479931.1:p.Ser112=
ENST00000636777.1:n.394C>T
ENST00000647778.1:c.336C>T	ENSP00000498125.1:p.Ser112=
ENST00000647882.1:c.336C>T	ENSP00000497025.1:p.Ser112=
ENST00000648415.1:n.1974C>T
ENST00000649334.1:c.336C>T	ENSP00000497735.1:p.Ser112=
ENST00000649519.1:c.336C>T	ENSP00000497630.1:p.Ser112=
ENST00000649701.1:n.51C>T
ENST00000649872.1:c.336C>T	ENSP00000497195.1:p.Ser112=
ENST00000650176.1:n.516C>T
ENST00000289081.7:c.336C>T	ENSP00000289081.3:p.Ser112=
ENST00000375305.5:c.336C>T	ENSP00000364454.1:p.Ser112=
ENST00000433829.1:c.336C>T	ENSP00000406908.1:p.Ser112=
ENST00000474949.1:n.598C>T
ENST00000490972.6:c.336C>T	ENSP00000479931.1:p.Ser112=
NM_000136.2:c.336C>T , LRG_497t1:c.336C>T	NP_000127.2:p.Ser112=
NM_001243743.1:c.336C>T	NP_001230672.1:p.Ser112=
NM_001243744.1:c.336C>T	NP_001230673.1:p.Ser112=
XM_006717001.1:c.336C>T	XP_006717064.1:p.Ser112=
XM_006717002.2:c.336C>T	XP_006717065.1:p.Ser112=
XM_006717004.2:c.336C>T	XP_006717067.1:p.Ser112=
XM_011518365.1:c.336C>T	XP_011516667.1:p.Ser112=
XM_011518366.1:c.336C>T	XP_011516668.1:p.Ser112=
XM_011518367.1:c.-266C>T	XP_011516669.1:n.-266C>T
XM_006717001.3:c.336C>T	XP_006717064.1:p.Ser112=
XM_006717002.4:c.336C>T	XP_006717065.1:p.Ser112=
XM_006717004.4:c.336C>T	XP_006717067.1:p.Ser112=
XM_011518365.3:c.336C>T	XP_011516667.1:p.Ser112=
XM_011518366.3:c.336C>T	XP_011516668.1:p.Ser112=
XM_011518367.2:c.-266C>T	XP_011516669.1:n.-266C>T
XM_017014452.2:c.-266C>T	XP_016869941.1:n.-266C>T
XM_017014453.1:c.-266C>T	XP_016869942.1:n.-266C>T
XM_017014454.1:c.-266C>T	XP_016869943.1:n.-266C>T
XM_024447451.1:c.336C>T	XP_024303219.1:p.Ser112=
NM_000136.3:c.336C>T MANE Select	NP_000127.2:p.Ser112=
NM_001243743.2:c.336C>T	NP_001230672.1:p.Ser112=
NM_001243744.2:c.336C>T	NP_001230673.1:p.Ser112=