Canonical Allele Identifier: CA304794233

Gene: C3

Linked Data

• dbSNP Id: rs529080850
• gnomAD v2: 19-6709491-A-G
• gnomAD v3: 19-6709480-A-G
• gnomAD v4: 19-6709480-A-G
• MyVariant Identifiers: chr19:g.6709491A>G (hg19) ; chr19:g.6709480A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6709480A>G , CM000681.2:g.6709480A>G	GRCh38
NC_000019.9:g.6709491A>G , CM000681.1:g.6709491A>G	GRCh37
NC_000019.8:g.6660491A>G	NCBI36
NG_009557.1:g.16172T>C , LRG_27:g.16172T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.1722+204T>C	ENSP00000512083.1:n.1722+204T>C
ENST00000695654.1:c.969+204T>C	ENSP00000512085.1:n.969+204T>C
ENST00000695655.1:c.786+204T>C	ENSP00000512086.1:n.786+204T>C
ENST00000695692.1:n.1209+204T>C
ENST00000245907.11:c.1845+204T>C MANE Select	ENSP00000245907.4:n.1845+204T>C
ENST00000245907.10:c.1845+204T>C	ENSP00000245907.4:n.1845+204T>C
NM_000064.3:c.1845+204T>C	NP_000055.2:n.1845+204T>C
NM_000064.4:c.1845+204T>C MANE Select	NP_000055.2:n.1845+204T>C