Canonical Allele Identifier: CA5137711

Gene: FANCC

Linked Data

• dbSNP Id: rs780677516
• ExAC: 9:97933313 T / G
• gnomAD v2: 9-97933313-T-G
• gnomAD v4: 9-95171031-T-G
• MyVariant Identifiers: chr9:g.97933313T>G (hg19) ; chr9:g.95171031T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95171031T>G , CM000671.2:g.95171031T>G	GRCh38
NC_000009.11:g.97933313T>G , CM000671.1:g.97933313T>G	GRCh37
NC_000009.10:g.96973134T>G	NCBI36
NG_011707.1:g.151679A>C , LRG_497:g.151679A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000696261.1:n.912+48A>C
ENST00000289081.8:c.521+48A>C MANE Select	ENSP00000289081.3:n.521+48A>C
ENST00000375305.6:c.521+48A>C	ENSP00000364454.1:n.521+48A>C
ENST00000490972.7:c.521+48A>C	ENSP00000479931.1:n.521+48A>C
ENST00000636777.1:n.579+48A>C
ENST00000649334.1:c.666+48A>C	ENSP00000497735.1:n.666+48A>C
ENST00000649701.1:n.236+48A>C
ENST00000289081.7:c.521+48A>C	ENSP00000289081.3:n.521+48A>C
ENST00000375305.5:c.521+48A>C	ENSP00000364454.1:n.521+48A>C
ENST00000490972.6:c.521+48A>C	ENSP00000479931.1:n.521+48A>C
NM_000136.2:c.521+48A>C , LRG_497t1:c.521+48A>C	NP_000127.2:n.521+48A>C
NM_001243743.1:c.521+48A>C	NP_001230672.1:n.521+48A>C
NM_001243744.1:c.521+48A>C	NP_001230673.1:n.521+48A>C
XM_006717001.1:c.521+48A>C	XP_006717064.1:n.521+48A>C
XM_006717002.2:c.521+48A>C	XP_006717065.1:n.521+48A>C
XM_006717004.2:c.521+48A>C	XP_006717067.1:n.521+48A>C
XM_011518365.1:c.521+48A>C	XP_011516667.1:n.521+48A>C
XM_011518366.1:c.521+48A>C	XP_011516668.1:n.521+48A>C
XM_011518367.1:c.65+48A>C	XP_011516669.1:n.65+48A>C
XM_006717001.3:c.521+48A>C	XP_006717064.1:n.521+48A>C
XM_006717002.4:c.521+48A>C	XP_006717065.1:n.521+48A>C
XM_006717004.4:c.521+48A>C	XP_006717067.1:n.521+48A>C
XM_011518365.3:c.521+48A>C	XP_011516667.1:n.521+48A>C
XM_011518366.3:c.521+48A>C	XP_011516668.1:n.521+48A>C
XM_011518367.2:c.65+48A>C	XP_011516669.1:n.65+48A>C
XM_017014452.2:c.65+48A>C	XP_016869941.1:n.65+48A>C
XM_017014453.1:c.65+48A>C	XP_016869942.1:n.65+48A>C
XM_017014454.1:c.65+48A>C	XP_016869943.1:n.65+48A>C
XM_024447451.1:c.521+48A>C	XP_024303219.1:n.521+48A>C
NM_000136.3:c.521+48A>C MANE Select	NP_000127.2:n.521+48A>C
NM_001243743.2:c.521+48A>C	NP_001230672.1:n.521+48A>C
NM_001243744.2:c.521+48A>C	NP_001230673.1:n.521+48A>C