Canonical Allele Identifier: CA2587878576
Gene: C3 HGNC NCBI

Linked Data

gnomAD v4: 19-6713867-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6713867T>G , CM000681.2:g.6713867T>G GRCh38
NC_000019.9:g.6713878T>G , CM000681.1:g.6713878T>G GRCh37
NC_000019.8:g.6664878T>G NCBI36
NG_009557.1:g.11785A>C , LRG_27:g.11785A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.650+125A>C ENSP00000512083.1:n.650+125A>C
ENST00000245907.11:c.773+125A>C MANE Select ENSP00000245907.4:n.773+125A>C
ENST00000245907.10:c.773+125A>C ENSP00000245907.4:n.773+125A>C
ENST00000595577.1:n.277+125A>C
NM_000064.3:c.773+125A>C NP_000055.2:n.773+125A>C
NM_000064.4:c.773+125A>C MANE Select NP_000055.2:n.773+125A>C