Canonical Allele Identifier: CA403618329
Gene: C3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6685021G>T , CM000681.2:g.6685021G>T GRCh38
NC_000019.9:g.6685032G>T , CM000681.1:g.6685032G>T GRCh37
NC_000019.8:g.6636032G>T NCBI36
NG_009557.1:g.40631C>A , LRG_27:g.40631C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2284C>A
ENST00000695653.1:c.1845C>A ENSP00000512084.1:p.His615Gln
ENST00000695654.1:c.2961C>A ENSP00000512085.1:p.His987Gln
ENST00000695690.1:n.127C>A
ENST00000695691.1:n.127C>A
ENST00000245907.11:c.3936C>A MANE Select ENSP00000245907.4:p.His1312Gln
ENST00000245907.10:c.3936C>A ENSP00000245907.4:p.His1312Gln
ENST00000596238.1:n.379C>A
ENST00000596548.1:c.18C>A ENSP00000469744.1:p.His6Gln
ENST00000601008.1:c.241+1725C>A ENSP00000471384.1:n.241+1725C>A
NM_000064.3:c.3936C>A NP_000055.2:p.His1312Gln
NM_000064.4:c.3936C>A MANE Select NP_000055.2:p.His1312Gln