Canonical Allele Identifier: CA5137753

Gene: FANCC

Linked Data

• ClinVar Variation Id: 2562115
• ClinVar RCV Id: RCV003310175
• dbSNP Id: rs745921537
• ExAC: 9:97934413 A / G
• gnomAD v2: 9-97934413-A-G
• gnomAD v4: 9-95172131-A-G
• MyVariant Identifiers: chr9:g.97934413A>G (hg19) ; chr9:g.95172131A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95172131A>G , CM000671.2:g.95172131A>G	GRCh38
NC_000009.11:g.97934413A>G , CM000671.1:g.97934413A>G	GRCh37
NC_000009.10:g.96974234A>G	NCBI36
NG_011707.1:g.150579T>C , LRG_497:g.150579T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696261.1:n.753T>C
ENST00000289081.8:c.362T>C MANE Select	ENSP00000289081.3:p.Ile121Thr
ENST00000375305.6:c.362T>C	ENSP00000364454.1:p.Ile121Thr
ENST00000490972.7:c.362T>C	ENSP00000479931.1:p.Ile121Thr
ENST00000636777.1:n.420T>C
ENST00000647778.1:c.362T>C	ENSP00000498125.1:p.Ile121Thr
ENST00000647882.1:c.362T>C	ENSP00000497025.1:p.Ile121Thr
ENST00000649334.1:c.507T>C	ENSP00000497735.1:n.507T>C
ENST00000649701.1:n.77T>C
ENST00000289081.7:c.362T>C	ENSP00000289081.3:p.Ile121Thr
ENST00000375305.5:c.362T>C	ENSP00000364454.1:p.Ile121Thr
ENST00000433829.1:c.362T>C	ENSP00000406908.1:p.Ile121Thr
ENST00000474949.1:n.719T>C
ENST00000490972.6:c.362T>C	ENSP00000479931.1:p.Ile121Thr
NM_000136.2:c.362T>C , LRG_497t1:c.362T>C	NP_000127.2:p.Ile121Thr
NM_001243743.1:c.362T>C	NP_001230672.1:p.Ile121Thr
NM_001243744.1:c.362T>C	NP_001230673.1:p.Ile121Thr
XM_006717001.1:c.362T>C	XP_006717064.1:p.Ile121Thr
XM_006717002.2:c.362T>C	XP_006717065.1:p.Ile121Thr
XM_006717004.2:c.362T>C	XP_006717067.1:p.Ile121Thr
XM_011518365.1:c.362T>C	XP_011516667.1:p.Ile121Thr
XM_011518366.1:c.362T>C	XP_011516668.1:p.Ile121Thr
XM_011518367.1:c.-95T>C	XP_011516669.1:n.-95T>C
XM_006717001.3:c.362T>C	XP_006717064.1:p.Ile121Thr
XM_006717002.4:c.362T>C	XP_006717065.1:p.Ile121Thr
XM_006717004.4:c.362T>C	XP_006717067.1:p.Ile121Thr
XM_011518365.3:c.362T>C	XP_011516667.1:p.Ile121Thr
XM_011518366.3:c.362T>C	XP_011516668.1:p.Ile121Thr
XM_011518367.2:c.-95T>C	XP_011516669.1:n.-95T>C
XM_017014452.2:c.-95T>C	XP_016869941.1:n.-95T>C
XM_017014453.1:c.-95T>C	XP_016869942.1:n.-95T>C
XM_017014454.1:c.-95T>C	XP_016869943.1:n.-95T>C
XM_024447451.1:c.362T>C	XP_024303219.1:p.Ile121Thr
NM_000136.3:c.362T>C MANE Select	NP_000127.2:p.Ile121Thr
NM_001243743.2:c.362T>C	NP_001230672.1:p.Ile121Thr
NM_001243744.2:c.362T>C	NP_001230673.1:p.Ile121Thr