Canonical Allele Identifier: CA403632975

Gene: C3

Linked Data

• gnomAD v4: 19-6697450-G-T
• MyVariant Identifiers: chr19:g.6697461G>T (hg19) ; chr19:g.6697450G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6697450G>T , CM000681.2:g.6697450G>T	GRCh38
NC_000019.9:g.6697461G>T , CM000681.1:g.6697461G>T	GRCh37
NC_000019.8:g.6648461G>T	NCBI36
NG_009557.1:g.28202C>A , LRG_27:g.28202C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.1038C>A
ENST00000695652.1:c.2567C>A	ENSP00000512083.1:p.Pro856Gln
ENST00000695653.1:c.599C>A	ENSP00000512084.1:p.Pro200Gln
ENST00000695654.1:c.1814C>A	ENSP00000512085.1:p.Pro605Gln
ENST00000695655.1:c.1631C>A	ENSP00000512086.1:n.1631C>A
ENST00000695692.1:n.2054C>A
ENST00000245907.11:c.2690C>A MANE Select	ENSP00000245907.4:p.Pro897Gln
ENST00000245907.10:c.2690C>A	ENSP00000245907.4:p.Pro897Gln
ENST00000594005.1:n.266C>A
NM_000064.3:c.2690C>A	NP_000055.2:p.Pro897Gln
NM_000064.4:c.2690C>A MANE Select	NP_000055.2:p.Pro897Gln