Canonical Allele Identifier: CA403643283
Gene: C3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6714247T>G , CM000681.2:g.6714247T>G GRCh38
NC_000019.9:g.6714258T>G , CM000681.1:g.6714258T>G GRCh37
NC_000019.8:g.6665258T>G NCBI36
NG_009557.1:g.11405A>C , LRG_27:g.11405A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.478A>C ENSP00000512083.1:p.Met160Leu
ENST00000245907.11:c.601A>C MANE Select ENSP00000245907.4:p.Met201Leu
ENST00000245907.10:c.601A>C ENSP00000245907.4:p.Met201Leu
ENST00000595577.1:n.105A>C
NM_000064.3:c.601A>C NP_000055.2:p.Met201Leu
NM_000064.4:c.601A>C MANE Select NP_000055.2:p.Met201Leu