Canonical Allele Identifier: CA466275736

Gene: FANCC

Linked Data

• ClinVar Variation Id: 1088435
• ClinVar RCV Id: RCV001638085 ; RCV001406914 ; RCV002384593
• dbSNP Id: rs2136100617
• gnomAD v4: 9-95249160-G-A
• MyVariant Identifiers: chr9:g.98011442G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95249160G>A , CM000671.2:g.95249160G>A	GRCh38
NC_000009.11:g.98011442G>A , CM000671.1:g.98011442G>A	GRCh37
NC_000009.10:g.97051263G>A	NCBI36
NG_011707.1:g.73550C>T , LRG_497:g.73550C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696261.1:n.378C>T
ENST00000696262.1:c.132C>T	ENSP00000512510.1:p.Phe44=
ENST00000696263.1:n.387C>T
ENST00000289081.8:c.132C>T MANE Select	ENSP00000289081.3:p.Phe44=
ENST00000375305.6:c.132C>T	ENSP00000364454.1:p.Phe44=
ENST00000490972.7:c.132C>T	ENSP00000479931.1:p.Phe44=
ENST00000636777.1:n.190C>T
ENST00000647778.1:c.132C>T	ENSP00000498125.1:p.Phe44=
ENST00000647882.1:c.132C>T	ENSP00000497025.1:p.Phe44=
ENST00000648415.1:n.1770C>T
ENST00000649334.1:c.132C>T	ENSP00000497735.1:p.Phe44=
ENST00000649519.1:c.132C>T	ENSP00000497630.1:p.Phe44=
ENST00000649611.1:c.132C>T	ENSP00000497986.1:p.Phe44=
ENST00000649872.1:c.132C>T	ENSP00000497195.1:p.Phe44=
ENST00000650176.1:n.312C>T
ENST00000289081.7:c.132C>T	ENSP00000289081.3:p.Phe44=
ENST00000375305.5:c.132C>T	ENSP00000364454.1:p.Phe44=
ENST00000433829.1:c.132C>T	ENSP00000406908.1:p.Phe44=
ENST00000474949.1:n.394C>T
ENST00000490972.6:c.132C>T	ENSP00000479931.1:p.Phe44=
NM_000136.2:c.132C>T , LRG_497t1:c.132C>T	NP_000127.2:p.Phe44=
NM_001243743.1:c.132C>T	NP_001230672.1:p.Phe44=
NM_001243744.1:c.132C>T	NP_001230673.1:p.Phe44=
XM_006717001.1:c.132C>T	XP_006717064.1:p.Phe44=
XM_006717002.2:c.132C>T	XP_006717065.1:p.Phe44=
XM_006717004.2:c.132C>T	XP_006717067.1:p.Phe44=
XM_011518365.1:c.132C>T	XP_011516667.1:p.Phe44=
XM_011518366.1:c.132C>T	XP_011516668.1:p.Phe44=
XM_011518367.1:c.-470C>T	XP_011516669.1:n.-470C>T
XM_006717001.3:c.132C>T	XP_006717064.1:p.Phe44=
XM_006717002.4:c.132C>T	XP_006717065.1:p.Phe44=
XM_006717004.4:c.132C>T	XP_006717067.1:p.Phe44=
XM_011518365.3:c.132C>T	XP_011516667.1:p.Phe44=
XM_011518366.3:c.132C>T	XP_011516668.1:p.Phe44=
XM_011518367.2:c.-470C>T	XP_011516669.1:n.-470C>T
XM_017014452.2:c.-470C>T	XP_016869941.1:n.-470C>T
XM_017014453.1:c.-470C>T	XP_016869942.1:n.-470C>T
XM_017014454.1:c.-470C>T	XP_016869943.1:n.-470C>T
XM_024447451.1:c.132C>T	XP_024303219.1:p.Phe44=
NM_000136.3:c.132C>T MANE Select	NP_000127.2:p.Phe44=
NM_001243743.2:c.132C>T	NP_001230672.1:p.Phe44=
NM_001243744.2:c.132C>T	NP_001230673.1:p.Phe44=