Canonical Allele Identifier: CA304794719

Gene: C3

Linked Data

• dbSNP Id: rs953836247
• gnomAD v2: 19-6710002-A-G
• gnomAD v3: 19-6709991-A-G
• gnomAD v4: 19-6709991-A-G
• MyVariant Identifiers: chr19:g.6710002A>G (hg19) ; chr19:g.6709991A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6709991A>G , CM000681.2:g.6709991A>G	GRCh38
NC_000019.9:g.6710002A>G , CM000681.1:g.6710002A>G	GRCh37
NC_000019.8:g.6661002A>G	NCBI36
NG_009557.1:g.15661T>C , LRG_27:g.15661T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.1564-149T>C	ENSP00000512083.1:n.1564-149T>C
ENST00000695654.1:c.811-149T>C	ENSP00000512085.1:n.811-149T>C
ENST00000695655.1:c.592-113T>C	ENSP00000512086.1:n.592-113T>C
ENST00000695692.1:n.1051-149T>C
ENST00000245907.11:c.1687-149T>C MANE Select	ENSP00000245907.4:n.1687-149T>C
ENST00000245907.10:c.1687-149T>C	ENSP00000245907.4:n.1687-149T>C
ENST00000600763.1:n.320-149T>C
NM_000064.3:c.1687-149T>C	NP_000055.2:n.1687-149T>C
NM_000064.4:c.1687-149T>C MANE Select	NP_000055.2:n.1687-149T>C