Canonical Allele Identifier: CA196534804

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.95099143G>A , CM000671.2:g.95099143G>A GRCh38
NC_000009.11:g.97861425G>A , CM000671.1:g.97861425G>A GRCh37
NC_000009.10:g.96901246G>A NCBI36
NG_011707.1:g.223567C>T , LRG_497:g.223567C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000710812.1:n.410+18363G>A (AOPEP)
ENST00000289081.8:c.*2564C>T (FANCC) MANE Select ENSP00000289081.3:n.*2564C>T
ENST00000375305.6:c.*2564C>T (FANCC) ENSP00000364454.1:n.*2564C>T
ENST00000289081.7:c.*2564C>T (FANCC) ENSP00000289081.3:n.*2564C>T
ENST00000375305.5:c.*2564C>T (FANCC) ENSP00000364454.1:n.*2564C>T
NM_000136.2:c.*2564C>T , LRG_497t1:c.*2564C>T (FANCC) NP_000127.2:n.*2564C>T
NM_001243743.1:c.*2564C>T (FANCC) NP_001230672.1:n.*2564C>T
XM_011519121.1:c.2319+18363G>A (AOPEP) XP_011517423.1:n.2319+18363G>A
XM_011519121.3:c.2319+18363G>A (AOPEP) XP_011517423.1:n.2319+18363G>A
NM_000136.3:c.*2564C>T (FANCC) MANE Select NP_000127.2:n.*2564C>T
NM_001243743.2:c.*2564C>T (FANCC) NP_001230672.1:n.*2564C>T