Canonical Allele Identifier: CA304797295

Gene: C3

Linked Data

• dbSNP Id: rs571861421
• gnomAD v2: 19-6712852-C-A
• gnomAD v3: 19-6712841-C-A
• gnomAD v4: 19-6712841-C-A
• MyVariant Identifiers: chr19:g.6712852C>A (hg19) ; chr19:g.6712841C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6712841C>A , CM000681.2:g.6712841C>A	GRCh38
NC_000019.9:g.6712852C>A , CM000681.1:g.6712852C>A	GRCh37
NC_000019.8:g.6663852C>A	NCBI36
NG_009557.1:g.12811G>T , LRG_27:g.12811G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.881-218G>T	ENSP00000512083.1:n.881-218G>T
ENST00000695654.1:c.128-218G>T	ENSP00000512085.1:n.128-218G>T
ENST00000695692.1:n.328-178G>T
ENST00000245907.11:c.1004-218G>T MANE Select	ENSP00000245907.4:n.1004-218G>T
ENST00000245907.10:c.1004-218G>T	ENSP00000245907.4:n.1004-218G>T
ENST00000594270.5:n.128-239G>T
ENST00000595577.1:n.508-218G>T
ENST00000597442.5:n.254-218G>T
NM_000064.3:c.1004-218G>T	NP_000055.2:n.1004-218G>T
NM_000064.4:c.1004-218G>T MANE Select	NP_000055.2:n.1004-218G>T