Canonical Allele Identifier: CA403618327
Gene: C3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6685020A>G , CM000681.2:g.6685020A>G GRCh38
NC_000019.9:g.6685031A>G , CM000681.1:g.6685031A>G GRCh37
NC_000019.8:g.6636031A>G NCBI36
NG_009557.1:g.40632T>C , LRG_27:g.40632T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2285T>C
ENST00000695653.1:c.1846T>C ENSP00000512084.1:p.Trp616Arg
ENST00000695654.1:c.2962T>C ENSP00000512085.1:p.Trp988Arg
ENST00000695690.1:n.128T>C
ENST00000695691.1:n.128T>C
ENST00000245907.11:c.3937T>C MANE Select ENSP00000245907.4:p.Trp1313Arg
ENST00000245907.10:c.3937T>C ENSP00000245907.4:p.Trp1313Arg
ENST00000596238.1:n.380T>C
ENST00000596548.1:c.19T>C ENSP00000469744.1:p.Trp7Arg
ENST00000601008.1:c.241+1726T>C ENSP00000471384.1:n.241+1726T>C
NM_000064.3:c.3937T>C NP_000055.2:p.Trp1313Arg
NM_000064.4:c.3937T>C MANE Select NP_000055.2:p.Trp1313Arg