Canonical Allele Identifier: CA505193054
Gene: C3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.6713433G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6713422G>A , CM000681.2:g.6713422G>A GRCh38
NC_000019.9:g.6713433G>A , CM000681.1:g.6713433G>A GRCh37
NC_000019.8:g.6664433G>A NCBI36
NG_009557.1:g.12230C>T , LRG_27:g.12230C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.738C>T ENSP00000512083.1:p.Ser246=
ENST00000695692.1:n.185C>T
ENST00000245907.11:c.861C>T MANE Select ENSP00000245907.4:p.Ser287=
ENST00000245907.10:c.861C>T ENSP00000245907.4:p.Ser287=
ENST00000595577.1:n.365C>T
ENST00000597442.5:n.111C>T
NM_000064.3:c.861C>T NP_000055.2:p.Ser287=
NM_000064.4:c.861C>T MANE Select NP_000055.2:p.Ser287=