Canonical Allele Identifier: CA9129679

Gene: C3

Linked Data

• dbSNP Id: rs200139151
• ExAC: 19:6713570 G / A
• gnomAD v2: 19-6713570-G-A
• gnomAD v3: 19-6713559-G-A
• gnomAD v4: 19-6713559-G-A
• MyVariant Identifiers: chr19:g.6713570G>A (hg19) ; chr19:g.6713559G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6713559G>A , CM000681.2:g.6713559G>A	GRCh38
NC_000019.9:g.6713570G>A , CM000681.1:g.6713570G>A	GRCh37
NC_000019.8:g.6664570G>A	NCBI36
NG_009557.1:g.12093C>T , LRG_27:g.12093C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.651-50C>T	ENSP00000512083.1:n.651-50C>T
ENST00000695692.1:n.48C>T
ENST00000245907.11:c.774-50C>T MANE Select	ENSP00000245907.4:n.774-50C>T
ENST00000245907.10:c.774-50C>T	ENSP00000245907.4:n.774-50C>T
ENST00000595577.1:n.278-50C>T
ENST00000597442.5:n.24-50C>T
NM_000064.3:c.774-50C>T	NP_000055.2:n.774-50C>T
NM_000064.4:c.774-50C>T MANE Select	NP_000055.2:n.774-50C>T