Canonical Allele Identifier: CA2587876852
Gene: C3 HGNC NCBI

Linked Data

gnomAD v4: 19-6709556-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6709556G>A , CM000681.2:g.6709556G>A GRCh38
NC_000019.9:g.6709567G>A , CM000681.1:g.6709567G>A GRCh37
NC_000019.8:g.6660567G>A NCBI36
NG_009557.1:g.16096C>T , LRG_27:g.16096C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.1722+128C>T ENSP00000512083.1:n.1722+128C>T
ENST00000695654.1:c.969+128C>T ENSP00000512085.1:n.969+128C>T
ENST00000695655.1:c.786+128C>T ENSP00000512086.1:n.786+128C>T
ENST00000695692.1:n.1209+128C>T
ENST00000245907.11:c.1845+128C>T MANE Select ENSP00000245907.4:n.1845+128C>T
ENST00000245907.10:c.1845+128C>T ENSP00000245907.4:n.1845+128C>T
NM_000064.3:c.1845+128C>T NP_000055.2:n.1845+128C>T
NM_000064.4:c.1845+128C>T MANE Select NP_000055.2:n.1845+128C>T