Canonical Allele Identifier: CA374106240

Linked Data

ClinVar Variation Id: 818997
dbSNP Id: rs1490551416
gnomAD v2: 9-97869523-A-T
gnomAD v4: 9-95107241-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.95107241A>T , CM000671.2:g.95107241A>T GRCh38
NC_000009.11:g.97869523A>T , CM000671.1:g.97869523A>T GRCh37
NC_000009.10:g.96909344A>T NCBI36
NG_011707.1:g.215469T>A , LRG_497:g.215469T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000710812.1:n.410+26461A>T (AOPEP)
ENST00000696260.1:n.2173T>A (FANCC)
ENST00000289081.8:c.1358T>A (FANCC) MANE Select ENSP00000289081.3:p.Leu453His
ENST00000375305.6:c.1358T>A (FANCC) ENSP00000364454.1:p.Leu453His
ENST00000649334.1:c.1503T>A (FANCC) ENSP00000497735.1:n.1503T>A
ENST00000289081.7:c.1358T>A (FANCC) ENSP00000289081.3:p.Leu453His
ENST00000375305.5:c.1358T>A (FANCC) ENSP00000364454.1:p.Leu453His
ENST00000464627.5:n.685T>A (FANCC)
NM_000136.2:c.1358T>A , LRG_497t1:c.1358T>A (FANCC) NP_000127.2:p.Leu453His
NM_001243743.1:c.1358T>A (FANCC) NP_001230672.1:p.Leu453His
XM_005251802.2:c.677T>A (FANCC) XP_005251859.1:p.Leu226His
XM_006717001.1:c.1193T>A (FANCC) XP_006717064.1:p.Leu398His
XM_011518365.1:c.1358T>A (FANCC) XP_011516667.1:p.Leu453His
XM_011518367.1:c.902T>A (FANCC) XP_011516669.1:p.Leu301His
XM_011519121.1:c.2319+26461A>T (AOPEP) XP_011517423.1:n.2319+26461A>T
XM_005251802.3:c.677T>A (FANCC) XP_005251859.1:p.Leu226His
XM_006717001.3:c.1193T>A (FANCC) XP_006717064.1:p.Leu398His
XM_011518365.3:c.1358T>A (FANCC) XP_011516667.1:p.Leu453His
XM_011518367.2:c.902T>A (FANCC) XP_011516669.1:p.Leu301His
XM_011519121.3:c.2319+26461A>T (AOPEP) XP_011517423.1:n.2319+26461A>T
XM_017014452.2:c.902T>A (FANCC) XP_016869941.1:p.Leu301His
XM_017014453.1:c.902T>A (FANCC) XP_016869942.1:p.Leu301His
XM_017014454.1:c.737T>A (FANCC) XP_016869943.1:p.Leu246His
XM_024447451.1:c.1358T>A (FANCC) XP_024303219.1:p.Leu453His
XR_001746847.1:n.659A>T
NM_000136.3:c.1358T>A (FANCC) MANE Select NP_000127.2:p.Leu453His
NM_001243743.2:c.1358T>A (FANCC) NP_001230672.1:p.Leu453His