Canonical Allele Identifier: CA505192988
Gene: C3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.6713210G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6713199G>A , CM000681.2:g.6713199G>A GRCh38
NC_000019.9:g.6713210G>A , CM000681.1:g.6713210G>A GRCh37
NC_000019.8:g.6664210G>A NCBI36
NG_009557.1:g.12453C>T , LRG_27:g.12453C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.870C>T ENSP00000512083.1:p.Ile290=
ENST00000695654.1:c.117C>T ENSP00000512085.1:p.Ile39=
ENST00000695692.1:n.317C>T
ENST00000245907.11:c.993C>T MANE Select ENSP00000245907.4:p.Ile331=
ENST00000245907.10:c.993C>T ENSP00000245907.4:p.Ile331=
ENST00000594270.5:n.117C>T
ENST00000595577.1:n.497C>T
ENST00000597442.5:n.243C>T
NM_000064.3:c.993C>T NP_000055.2:p.Ile331=
NM_000064.4:c.993C>T MANE Select NP_000055.2:p.Ile331=