Canonical Allele Identifier: CA5137717

Gene: FANCC

Linked Data

• ClinVar Variation Id: 1049004
• ClinVar RCV Id: RCV001354526 ; RCV001476046 ; RCV002341740
• dbSNP Id: rs777734585
• ExAC: 9:97933372 G / A
• gnomAD v2: 9-97933372-G-A
• gnomAD v3: 9-95171090-G-A
• gnomAD v4: 9-95171090-G-A
• MyVariant Identifiers: chr9:g.97933372G>A (hg19) ; chr9:g.95171090G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95171090G>A , CM000671.2:g.95171090G>A	GRCh38
NC_000009.11:g.97933372G>A , CM000671.1:g.97933372G>A	GRCh37
NC_000009.10:g.96973193G>A	NCBI36
NG_011707.1:g.151620C>T , LRG_497:g.151620C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696261.1:n.901C>T
ENST00000289081.8:c.510C>T MANE Select	ENSP00000289081.3:p.Asn170=
ENST00000375305.6:c.510C>T	ENSP00000364454.1:p.Asn170=
ENST00000490972.7:c.510C>T	ENSP00000479931.1:p.Asn170=
ENST00000636777.1:n.568C>T
ENST00000649334.1:c.655C>T	ENSP00000497735.1:n.655C>T
ENST00000649701.1:n.225C>T
ENST00000289081.7:c.510C>T	ENSP00000289081.3:p.Asn170=
ENST00000375305.5:c.510C>T	ENSP00000364454.1:p.Asn170=
ENST00000490972.6:c.510C>T	ENSP00000479931.1:p.Asn170=
NM_000136.2:c.510C>T , LRG_497t1:c.510C>T	NP_000127.2:p.Asn170=
NM_001243743.1:c.510C>T	NP_001230672.1:p.Asn170=
NM_001243744.1:c.510C>T	NP_001230673.1:p.Asn170=
XM_006717001.1:c.510C>T	XP_006717064.1:p.Asn170=
XM_006717002.2:c.510C>T	XP_006717065.1:p.Asn170=
XM_006717004.2:c.510C>T	XP_006717067.1:p.Asn170=
XM_011518365.1:c.510C>T	XP_011516667.1:p.Asn170=
XM_011518366.1:c.510C>T	XP_011516668.1:p.Asn170=
XM_011518367.1:c.54C>T	XP_011516669.1:p.Asn18=
XM_006717001.3:c.510C>T	XP_006717064.1:p.Asn170=
XM_006717002.4:c.510C>T	XP_006717065.1:p.Asn170=
XM_006717004.4:c.510C>T	XP_006717067.1:p.Asn170=
XM_011518365.3:c.510C>T	XP_011516667.1:p.Asn170=
XM_011518366.3:c.510C>T	XP_011516668.1:p.Asn170=
XM_011518367.2:c.54C>T	XP_011516669.1:p.Asn18=
XM_017014452.2:c.54C>T	XP_016869941.1:p.Asn18=
XM_017014453.1:c.54C>T	XP_016869942.1:p.Asn18=
XM_017014454.1:c.54C>T	XP_016869943.1:p.Asn18=
XM_024447451.1:c.510C>T	XP_024303219.1:p.Asn170=
NM_000136.3:c.510C>T MANE Select	NP_000127.2:p.Asn170=
NM_001243743.2:c.510C>T	NP_001230672.1:p.Asn170=
NM_001243744.2:c.510C>T	NP_001230673.1:p.Asn170=