Canonical Allele Identifier: CA2587878694
Gene: C3 HGNC NCBI

Linked Data

gnomAD v4: 19-6714313-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6714313A>G , CM000681.2:g.6714313A>G GRCh38
NC_000019.9:g.6714324A>G , CM000681.1:g.6714324A>G GRCh37
NC_000019.8:g.6665324A>G NCBI36
NG_009557.1:g.11339T>C , LRG_27:g.11339T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.476+39T>C ENSP00000512083.1:n.476+39T>C
ENST00000245907.11:c.599+39T>C MANE Select ENSP00000245907.4:n.599+39T>C
ENST00000245907.10:c.599+39T>C ENSP00000245907.4:n.599+39T>C
ENST00000595577.1:n.39T>C
NM_000064.3:c.599+39T>C NP_000055.2:n.599+39T>C
NM_000064.4:c.599+39T>C MANE Select NP_000055.2:n.599+39T>C