Canonical Allele Identifier: CA466274841

Gene: FANCC

Linked Data

• ClinVar Variation Id: 1122110
• ClinVar RCV Id: RCV001452642
• dbSNP Id: rs1825652301
• MyVariant Identifiers: chr9:g.97933413A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95171131A>G , CM000671.2:g.95171131A>G	GRCh38
NC_000009.11:g.97933413A>G , CM000671.1:g.97933413A>G	GRCh37
NC_000009.10:g.96973234A>G	NCBI36
NG_011707.1:g.151579T>C , LRG_497:g.151579T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000696261.1:n.860T>C
ENST00000289081.8:c.469T>C MANE Select	ENSP00000289081.3:p.Leu157=
ENST00000375305.6:c.469T>C	ENSP00000364454.1:p.Leu157=
ENST00000490972.7:c.469T>C	ENSP00000479931.1:p.Leu157=
ENST00000636777.1:n.527T>C
ENST00000649334.1:c.614T>C	ENSP00000497735.1:n.614T>C
ENST00000649701.1:n.184T>C
ENST00000289081.7:c.469T>C	ENSP00000289081.3:p.Leu157=
ENST00000375305.5:c.469T>C	ENSP00000364454.1:p.Leu157=
ENST00000474949.1:n.826T>C
ENST00000490972.6:c.469T>C	ENSP00000479931.1:p.Leu157=
NM_000136.2:c.469T>C , LRG_497t1:c.469T>C	NP_000127.2:p.Leu157=
NM_001243743.1:c.469T>C	NP_001230672.1:p.Leu157=
NM_001243744.1:c.469T>C	NP_001230673.1:p.Leu157=
XM_006717001.1:c.469T>C	XP_006717064.1:p.Leu157=
XM_006717002.2:c.469T>C	XP_006717065.1:p.Leu157=
XM_006717004.2:c.469T>C	XP_006717067.1:p.Leu157=
XM_011518365.1:c.469T>C	XP_011516667.1:p.Leu157=
XM_011518366.1:c.469T>C	XP_011516668.1:p.Leu157=
XM_011518367.1:c.13T>C	XP_011516669.1:p.Leu5=
XM_006717001.3:c.469T>C	XP_006717064.1:p.Leu157=
XM_006717002.4:c.469T>C	XP_006717065.1:p.Leu157=
XM_006717004.4:c.469T>C	XP_006717067.1:p.Leu157=
XM_011518365.3:c.469T>C	XP_011516667.1:p.Leu157=
XM_011518366.3:c.469T>C	XP_011516668.1:p.Leu157=
XM_011518367.2:c.13T>C	XP_011516669.1:p.Leu5=
XM_017014452.2:c.13T>C	XP_016869941.1:p.Leu5=
XM_017014453.1:c.13T>C	XP_016869942.1:p.Leu5=
XM_017014454.1:c.13T>C	XP_016869943.1:p.Leu5=
XM_024447451.1:c.469T>C	XP_024303219.1:p.Leu157=
NM_000136.3:c.469T>C MANE Select	NP_000127.2:p.Leu157=
NM_001243743.2:c.469T>C	NP_001230672.1:p.Leu157=
NM_001243744.2:c.469T>C	NP_001230673.1:p.Leu157=