Canonical Allele Identifier: CA466092362

Linked Data

MyVariant Identifiers: chr9:g.97869480C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.95107198C>A , CM000671.2:g.95107198C>A GRCh38
NC_000009.11:g.97869480C>A , CM000671.1:g.97869480C>A GRCh37
NC_000009.10:g.96909301C>A NCBI36
NG_011707.1:g.215512G>T , LRG_497:g.215512G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000710812.1:n.410+26418C>A (AOPEP)
ENST00000696260.1:n.2216G>T (FANCC)
ENST00000289081.8:c.1401G>T (FANCC) MANE Select ENSP00000289081.3:p.Leu467=
ENST00000375305.6:c.1401G>T (FANCC) ENSP00000364454.1:p.Leu467=
ENST00000649334.1:c.1546G>T (FANCC) ENSP00000497735.1:n.1546G>T
ENST00000289081.7:c.1401G>T (FANCC) ENSP00000289081.3:p.Leu467=
ENST00000375305.5:c.1401G>T (FANCC) ENSP00000364454.1:p.Leu467=
ENST00000464627.5:n.728G>T (FANCC)
NM_000136.2:c.1401G>T , LRG_497t1:c.1401G>T (FANCC) NP_000127.2:p.Leu467=
NM_001243743.1:c.1401G>T (FANCC) NP_001230672.1:p.Leu467=
XM_005251802.2:c.720G>T (FANCC) XP_005251859.1:p.Leu240=
XM_006717001.1:c.1236G>T (FANCC) XP_006717064.1:p.Leu412=
XM_011518365.1:c.1401G>T (FANCC) XP_011516667.1:p.Leu467=
XM_011518367.1:c.945G>T (FANCC) XP_011516669.1:p.Leu315=
XM_011519121.1:c.2319+26418C>A (AOPEP) XP_011517423.1:n.2319+26418C>A
XM_005251802.3:c.720G>T (FANCC) XP_005251859.1:p.Leu240=
XM_006717001.3:c.1236G>T (FANCC) XP_006717064.1:p.Leu412=
XM_011518365.3:c.1401G>T (FANCC) XP_011516667.1:p.Leu467=
XM_011518367.2:c.945G>T (FANCC) XP_011516669.1:p.Leu315=
XM_011519121.3:c.2319+26418C>A (AOPEP) XP_011517423.1:n.2319+26418C>A
XM_017014452.2:c.945G>T (FANCC) XP_016869941.1:p.Leu315=
XM_017014453.1:c.945G>T (FANCC) XP_016869942.1:p.Leu315=
XM_017014454.1:c.780G>T (FANCC) XP_016869943.1:p.Leu260=
XM_024447451.1:c.1401G>T (FANCC) XP_024303219.1:p.Leu467=
XR_001746847.1:n.616C>A
NM_000136.3:c.1401G>T (FANCC) MANE Select NP_000127.2:p.Leu467=
NM_001243743.2:c.1401G>T (FANCC) NP_001230672.1:p.Leu467=