Canonical Allele Identifier: CA5137307

Gene: AOPEP FANCC

Linked Data

• dbSNP Id: rs761359937
• ExAC: 9:97864184 T / G
• gnomAD v2: 9-97864184-T-G
• gnomAD v4: 9-95101902-T-G
• MyVariant Identifiers: chr9:g.97864184T>G (hg19) ; chr9:g.95101902T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95101902T>G , CM000671.2:g.95101902T>G	GRCh38
NC_000009.11:g.97864184T>G , CM000671.1:g.97864184T>G	GRCh37
NC_000009.10:g.96904005T>G	NCBI36
NG_011707.1:g.220808A>C , LRG_497:g.220808A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710812.1:n.410+21122T>G (AOPEP)
ENST00000696260.1:n.2349-52A>C (FANCC)
ENST00000289081.8:c.1534-52A>C (FANCC) MANE Select	ENSP00000289081.3:n.1534-52A>C
ENST00000375305.6:c.1534-52A>C (FANCC)	ENSP00000364454.1:n.1534-52A>C
ENST00000649334.1:c.1679-52A>C (FANCC)	ENSP00000497735.1:n.1679-52A>C
ENST00000289081.7:c.1534-52A>C (FANCC)	ENSP00000289081.3:n.1534-52A>C
ENST00000375305.5:c.1534-52A>C (FANCC)	ENSP00000364454.1:n.1534-52A>C
NM_000136.2:c.1534-52A>C , LRG_497t1:c.1534-52A>C (FANCC)	NP_000127.2:n.1534-52A>C
NM_001243743.1:c.1534-52A>C (FANCC)	NP_001230672.1:n.1534-52A>C
XM_005251802.2:c.853-52A>C (FANCC)	XP_005251859.1:n.853-52A>C
XM_006717001.1:c.1369-52A>C (FANCC)	XP_006717064.1:n.1369-52A>C
XM_011518365.1:c.1534-52A>C (FANCC)	XP_011516667.1:n.1534-52A>C
XM_011518367.1:c.1078-52A>C (FANCC)	XP_011516669.1:n.1078-52A>C
XM_011519121.1:c.2319+21122T>G (AOPEP)	XP_011517423.1:n.2319+21122T>G
XM_005251802.3:c.853-52A>C (FANCC)	XP_005251859.1:n.853-52A>C
XM_006717001.3:c.1369-52A>C (FANCC)	XP_006717064.1:n.1369-52A>C
XM_011518365.3:c.1534-52A>C (FANCC)	XP_011516667.1:n.1534-52A>C
XM_011518367.2:c.1078-52A>C (FANCC)	XP_011516669.1:n.1078-52A>C
XM_011519121.3:c.2319+21122T>G (AOPEP)	XP_011517423.1:n.2319+21122T>G
XM_017014452.2:c.1078-52A>C (FANCC)	XP_016869941.1:n.1078-52A>C
XM_017014453.1:c.1078-52A>C (FANCC)	XP_016869942.1:n.1078-52A>C
XM_017014454.1:c.913-52A>C (FANCC)	XP_016869943.1:n.913-52A>C
XM_024447451.1:c.1534-52A>C (FANCC)	XP_024303219.1:n.1534-52A>C
NM_000136.3:c.1534-52A>C (FANCC) MANE Select	NP_000127.2:n.1534-52A>C
NM_001243743.2:c.1534-52A>C (FANCC)	NP_001230672.1:n.1534-52A>C