Canonical Allele Identifier: CA403643212

Gene: C3

Linked Data

• gnomAD v4: 19-6714217-C-G
• MyVariant Identifiers: chr19:g.6714228C>G (hg19) ; chr19:g.6714217C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6714217C>G , CM000681.2:g.6714217C>G	GRCh38
NC_000019.9:g.6714228C>G , CM000681.1:g.6714228C>G	GRCh37
NC_000019.8:g.6665228C>G	NCBI36
NG_009557.1:g.11435G>C , LRG_27:g.11435G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.508G>C	ENSP00000512083.1:p.Glu170Gln
ENST00000245907.11:c.631G>C MANE Select	ENSP00000245907.4:p.Glu211Gln
ENST00000245907.10:c.631G>C	ENSP00000245907.4:p.Glu211Gln
ENST00000595577.1:n.135G>C
NM_000064.3:c.631G>C	NP_000055.2:p.Glu211Gln
NM_000064.4:c.631G>C MANE Select	NP_000055.2:p.Glu211Gln