Canonical Allele Identifier: CA374104339

Linked Data

ClinVar Variation Id: 951963
dbSNP Id: rs2071083777
gnomAD v4: 9-95101748-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.95101748G>C , CM000671.2:g.95101748G>C GRCh38
NC_000009.11:g.97864030G>C , CM000671.1:g.97864030G>C GRCh37
NC_000009.10:g.96903851G>C NCBI36
NG_011707.1:g.220962C>G , LRG_497:g.220962C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000710812.1:n.410+20968G>C (AOPEP)
ENST00000696260.1:n.2451C>G (FANCC)
ENST00000289081.8:c.1636C>G (FANCC) MANE Select ENSP00000289081.3:p.Leu546Val
ENST00000375305.6:c.1636C>G (FANCC) ENSP00000364454.1:p.Leu546Val
ENST00000649334.1:c.1781C>G (FANCC) ENSP00000497735.1:n.1781C>G
ENST00000289081.7:c.1636C>G (FANCC) ENSP00000289081.3:p.Leu546Val
ENST00000375305.5:c.1636C>G (FANCC) ENSP00000364454.1:p.Leu546Val
NM_000136.2:c.1636C>G , LRG_497t1:c.1636C>G (FANCC) NP_000127.2:p.Leu546Val
NM_001243743.1:c.1636C>G (FANCC) NP_001230672.1:p.Leu546Val
XM_005251802.2:c.955C>G (FANCC) XP_005251859.1:p.Leu319Val
XM_006717001.1:c.1471C>G (FANCC) XP_006717064.1:p.Leu491Val
XM_011518365.1:c.1636C>G (FANCC) XP_011516667.1:p.Leu546Val
XM_011518367.1:c.1180C>G (FANCC) XP_011516669.1:p.Leu394Val
XM_011519121.1:c.2319+20968G>C (AOPEP) XP_011517423.1:n.2319+20968G>C
XM_005251802.3:c.955C>G (FANCC) XP_005251859.1:p.Leu319Val
XM_006717001.3:c.1471C>G (FANCC) XP_006717064.1:p.Leu491Val
XM_011518365.3:c.1636C>G (FANCC) XP_011516667.1:p.Leu546Val
XM_011518367.2:c.1180C>G (FANCC) XP_011516669.1:p.Leu394Val
XM_011519121.3:c.2319+20968G>C (AOPEP) XP_011517423.1:n.2319+20968G>C
XM_017014452.2:c.1180C>G (FANCC) XP_016869941.1:p.Leu394Val
XM_017014453.1:c.1180C>G (FANCC) XP_016869942.1:p.Leu394Val
XM_017014454.1:c.1015C>G (FANCC) XP_016869943.1:p.Leu339Val
XM_024447451.1:c.1636C>G (FANCC) XP_024303219.1:p.Leu546Val
NM_000136.3:c.1636C>G (FANCC) MANE Select NP_000127.2:p.Leu546Val
NM_001243743.2:c.1636C>G (FANCC) NP_001230672.1:p.Leu546Val