Canonical Allele Identifier: CA5137723

Gene: FANCC

Linked Data

• ClinVar Variation Id: 382830
• ClinVar RCV Id: RCV000569565 ; RCV001494264 ; RCV001703742 ; RCV004525928
• dbSNP Id: rs768342908
• ExAC: 9:97933408 C / T
• gnomAD v2: 9-97933408-C-T
• gnomAD v3: 9-95171126-C-T
• gnomAD v4: 9-95171126-C-T
• MyVariant Identifiers: chr9:g.97933408C>T (hg19) ; chr9:g.95171126C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95171126C>T , CM000671.2:g.95171126C>T	GRCh38
NC_000009.11:g.97933408C>T , CM000671.1:g.97933408C>T	GRCh37
NC_000009.10:g.96973229C>T	NCBI36
NG_011707.1:g.151584G>A , LRG_497:g.151584G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696261.1:n.865G>A
ENST00000289081.8:c.474G>A MANE Select	ENSP00000289081.3:p.Ala158=
ENST00000375305.6:c.474G>A	ENSP00000364454.1:p.Ala158=
ENST00000490972.7:c.474G>A	ENSP00000479931.1:p.Ala158=
ENST00000636777.1:n.532G>A
ENST00000649334.1:c.619G>A	ENSP00000497735.1:n.619G>A
ENST00000649701.1:n.189G>A
ENST00000289081.7:c.474G>A	ENSP00000289081.3:p.Ala158=
ENST00000375305.5:c.474G>A	ENSP00000364454.1:p.Ala158=
ENST00000474949.1:n.831G>A
ENST00000490972.6:c.474G>A	ENSP00000479931.1:p.Ala158=
NM_000136.2:c.474G>A , LRG_497t1:c.474G>A	NP_000127.2:p.Ala158=
NM_001243743.1:c.474G>A	NP_001230672.1:p.Ala158=
NM_001243744.1:c.474G>A	NP_001230673.1:p.Ala158=
XM_006717001.1:c.474G>A	XP_006717064.1:p.Ala158=
XM_006717002.2:c.474G>A	XP_006717065.1:p.Ala158=
XM_006717004.2:c.474G>A	XP_006717067.1:p.Ala158=
XM_011518365.1:c.474G>A	XP_011516667.1:p.Ala158=
XM_011518366.1:c.474G>A	XP_011516668.1:p.Ala158=
XM_011518367.1:c.18G>A	XP_011516669.1:p.Ala6=
XM_006717001.3:c.474G>A	XP_006717064.1:p.Ala158=
XM_006717002.4:c.474G>A	XP_006717065.1:p.Ala158=
XM_006717004.4:c.474G>A	XP_006717067.1:p.Ala158=
XM_011518365.3:c.474G>A	XP_011516667.1:p.Ala158=
XM_011518366.3:c.474G>A	XP_011516668.1:p.Ala158=
XM_011518367.2:c.18G>A	XP_011516669.1:p.Ala6=
XM_017014452.2:c.18G>A	XP_016869941.1:p.Ala6=
XM_017014453.1:c.18G>A	XP_016869942.1:p.Ala6=
XM_017014454.1:c.18G>A	XP_016869943.1:p.Ala6=
XM_024447451.1:c.474G>A	XP_024303219.1:p.Ala158=
NM_000136.3:c.474G>A MANE Select	NP_000127.2:p.Ala158=
NM_001243743.2:c.474G>A	NP_001230672.1:p.Ala158=
NM_001243744.2:c.474G>A	NP_001230673.1:p.Ala158=