Canonical Allele Identifier: CA2587878287
Gene: C3 HGNC NCBI

Linked Data

gnomAD v4: 19-6713378-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6713378G>A , CM000681.2:g.6713378G>A GRCh38
NC_000019.9:g.6713389G>A , CM000681.1:g.6713389G>A GRCh37
NC_000019.8:g.6664389G>A NCBI36
NG_009557.1:g.12274C>T , LRG_27:g.12274C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.753+29C>T ENSP00000512083.1:n.753+29C>T
ENST00000695692.1:n.200+29C>T
ENST00000245907.11:c.876+29C>T MANE Select ENSP00000245907.4:n.876+29C>T
ENST00000245907.10:c.876+29C>T ENSP00000245907.4:n.876+29C>T
ENST00000595577.1:n.380+29C>T
ENST00000597442.5:n.126+29C>T
NM_000064.3:c.876+29C>T NP_000055.2:n.876+29C>T
NM_000064.4:c.876+29C>T MANE Select NP_000055.2:n.876+29C>T