Canonical Allele Identifier: CA2587872320
Gene: C3 HGNC NCBI

Linked Data

gnomAD v4: 19-6682368-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6682368G>A , CM000681.2:g.6682368G>A GRCh38
NC_000019.9:g.6682379G>A , CM000681.1:g.6682379G>A GRCh37
NC_000019.8:g.6633379G>A NCBI36
NG_009557.1:g.43284C>T , LRG_27:g.43284C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2521-139C>T
ENST00000695653.1:c.2082-139C>T ENSP00000512084.1:n.2082-139C>T
ENST00000695654.1:c.3198-139C>T ENSP00000512085.1:n.3198-139C>T
ENST00000695689.1:c.144-139C>T ENSP00000512101.1:n.144-139C>T
ENST00000695690.1:n.364-139C>T
ENST00000695691.1:n.364-139C>T
ENST00000245907.11:c.4173-139C>T MANE Select ENSP00000245907.4:n.4173-139C>T
ENST00000245907.10:c.4173-139C>T ENSP00000245907.4:n.4173-139C>T
ENST00000596548.1:c.294-139C>T ENSP00000469744.1:n.294-139C>T
ENST00000599899.5:n.993C>T
ENST00000601008.1:c.241+4378C>T ENSP00000471384.1:n.241+4378C>T
NM_000064.3:c.4173-139C>T NP_000055.2:n.4173-139C>T
NM_000064.4:c.4173-139C>T MANE Select NP_000055.2:n.4173-139C>T