Canonical Allele Identifier: CA374109845

Gene: AOPEP FANCC

Linked Data

• ClinVar Variation Id: 3230388
• ClinVar RCV Id: RCV004520539
• MyVariant Identifiers: chr9:g.97912350C>A (hg19) ; chr9:g.95150068C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95150068C>A , CM000671.2:g.95150068C>A	GRCh38
NC_000009.11:g.97912350C>A , CM000671.1:g.97912350C>A	GRCh37
NC_000009.10:g.96952171C>A	NCBI36
NG_011707.1:g.172642G>T , LRG_497:g.172642G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710812.1:n.3268C>A (AOPEP)
ENST00000696261.1:n.932G>T (FANCC)
ENST00000289081.8:c.541G>T (FANCC) MANE Select	ENSP00000289081.3:p.Ala181Ser
ENST00000375305.6:c.541G>T (FANCC)	ENSP00000364454.1:p.Ala181Ser
ENST00000490972.7:c.541G>T (FANCC)	ENSP00000479931.1:p.Ala181Ser
ENST00000636777.1:n.599G>T (FANCC)
ENST00000649334.1:c.686G>T (FANCC)	ENSP00000497735.1:n.686G>T
ENST00000649701.1:n.256G>T (FANCC)
ENST00000289081.7:c.541G>T (FANCC)	ENSP00000289081.3:p.Ala181Ser
ENST00000375305.5:c.541G>T (FANCC)	ENSP00000364454.1:p.Ala181Ser
ENST00000490972.6:c.541G>T (FANCC)	ENSP00000479931.1:p.Ala181Ser
NM_000136.2:c.541G>T , LRG_497t1:c.541G>T (FANCC)	NP_000127.2:p.Ala181Ser
NM_001243743.1:c.541G>T (FANCC)	NP_001230672.1:p.Ala181Ser
NM_001243744.1:c.541G>T (FANCC)	NP_001230673.1:p.Ala181Ser
XM_006717001.1:c.522-14566G>T (FANCC)	XP_006717064.1:n.522-14566G>T
XM_006717002.2:c.541G>T (FANCC)	XP_006717065.1:p.Ala181Ser
XM_006717004.2:c.541G>T (FANCC)	XP_006717067.1:p.Ala181Ser
XM_011518365.1:c.541G>T (FANCC)	XP_011516667.1:p.Ala181Ser
XM_011518366.1:c.541G>T (FANCC)	XP_011516668.1:p.Ala181Ser
XM_011518367.1:c.85G>T (FANCC)	XP_011516669.1:p.Ala29Ser
XM_006717001.3:c.522-14566G>T (FANCC)	XP_006717064.1:n.522-14566G>T
XM_006717002.4:c.541G>T (FANCC)	XP_006717065.1:p.Ala181Ser
XM_006717004.4:c.541G>T (FANCC)	XP_006717067.1:p.Ala181Ser
XM_011518365.3:c.541G>T (FANCC)	XP_011516667.1:p.Ala181Ser
XM_011518366.3:c.541G>T (FANCC)	XP_011516668.1:p.Ala181Ser
XM_011518367.2:c.85G>T (FANCC)	XP_011516669.1:p.Ala29Ser
XM_017014452.2:c.85G>T (FANCC)	XP_016869941.1:p.Ala29Ser
XM_017014453.1:c.85G>T (FANCC)	XP_016869942.1:p.Ala29Ser
XM_017014454.1:c.66-14566G>T (FANCC)	XP_016869943.1:n.66-14566G>T
XM_024447451.1:c.541G>T (FANCC)	XP_024303219.1:p.Ala181Ser
NM_000136.3:c.541G>T (FANCC) MANE Select	NP_000127.2:p.Ala181Ser
NM_001243743.2:c.541G>T (FANCC)	NP_001230672.1:p.Ala181Ser
NM_001243744.2:c.541G>T (FANCC)	NP_001230673.1:p.Ala181Ser