Canonical Allele Identifier: CA5137403

Gene: AOPEP FANCC

Linked Data

• dbSNP Id: rs751143672
• ExAC: 9:97873789 A / T
• gnomAD v2: 9-97873789-A-T
• gnomAD v4: 9-95111507-A-T
• MyVariant Identifiers: chr9:g.97873789A>T (hg19) ; chr9:g.95111507A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95111507A>T , CM000671.2:g.95111507A>T	GRCh38
NC_000009.11:g.97873789A>T , CM000671.1:g.97873789A>T	GRCh37
NC_000009.10:g.96913610A>T	NCBI36
NG_011707.1:g.211203T>A , LRG_497:g.211203T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000710812.1:n.410+30727A>T (AOPEP)
ENST00000696260.1:n.2100T>A (FANCC)
ENST00000289081.8:c.1285T>A (FANCC) MANE Select	ENSP00000289081.3:p.Tyr429Asn
ENST00000375305.6:c.1285T>A (FANCC)	ENSP00000364454.1:p.Tyr429Asn
ENST00000490972.7:c.1285T>A (FANCC)	ENSP00000479931.1:p.Tyr429Asn
ENST00000649334.1:c.1430T>A (FANCC)	ENSP00000497735.1:n.1430T>A
ENST00000289081.7:c.1285T>A (FANCC)	ENSP00000289081.3:p.Tyr429Asn
ENST00000375305.5:c.1285T>A (FANCC)	ENSP00000364454.1:p.Tyr429Asn
ENST00000464627.5:n.612T>A (FANCC)
ENST00000477942.5:n.640T>A (FANCC)
ENST00000480712.5:n.470T>A (FANCC)
ENST00000490972.6:c.1285T>A (FANCC)	ENSP00000479931.1:p.Tyr429Asn
NM_000136.2:c.1285T>A , LRG_497t1:c.1285T>A (FANCC)	NP_000127.2:p.Tyr429Asn
NM_001243743.1:c.1285T>A (FANCC)	NP_001230672.1:p.Tyr429Asn
NM_001243744.1:c.1285T>A (FANCC)	NP_001230673.1:p.Tyr429Asn
XM_005251802.2:c.604T>A (FANCC)	XP_005251859.1:p.Tyr202Asn
XM_006717001.1:c.1120T>A (FANCC)	XP_006717064.1:p.Tyr374Asn
XM_006717002.2:c.1285T>A (FANCC)	XP_006717065.1:p.Tyr429Asn
XM_011518365.1:c.1285T>A (FANCC)	XP_011516667.1:p.Tyr429Asn
XM_011518366.1:c.1285T>A (FANCC)	XP_011516668.1:p.Tyr429Asn
XM_011518367.1:c.829T>A (FANCC)	XP_011516669.1:p.Tyr277Asn
XM_011519121.1:c.2319+30727A>T (AOPEP)	XP_011517423.1:n.2319+30727A>T
XM_005251802.3:c.604T>A (FANCC)	XP_005251859.1:p.Tyr202Asn
XM_006717001.3:c.1120T>A (FANCC)	XP_006717064.1:p.Tyr374Asn
XM_006717002.4:c.1285T>A (FANCC)	XP_006717065.1:p.Tyr429Asn
XM_011518365.3:c.1285T>A (FANCC)	XP_011516667.1:p.Tyr429Asn
XM_011518366.3:c.1285T>A (FANCC)	XP_011516668.1:p.Tyr429Asn
XM_011518367.2:c.829T>A (FANCC)	XP_011516669.1:p.Tyr277Asn
XM_011519121.3:c.2319+30727A>T (AOPEP)	XP_011517423.1:n.2319+30727A>T
XM_017014452.2:c.829T>A (FANCC)	XP_016869941.1:p.Tyr277Asn
XM_017014453.1:c.829T>A (FANCC)	XP_016869942.1:p.Tyr277Asn
XM_017014454.1:c.664T>A (FANCC)	XP_016869943.1:p.Tyr222Asn
XM_024447451.1:c.1285T>A (FANCC)	XP_024303219.1:p.Tyr429Asn
NM_000136.3:c.1285T>A (FANCC) MANE Select	NP_000127.2:p.Tyr429Asn
NM_001243743.2:c.1285T>A (FANCC)	NP_001230672.1:p.Tyr429Asn
NM_001243744.2:c.1285T>A (FANCC)	NP_001230673.1:p.Tyr429Asn