Canonical Allele Identifier: CA304771767

Gene: C3

Linked Data

• dbSNP Id: rs1001117885
• gnomAD v2: 19-6679556-A-G
• gnomAD v4: 19-6679545-A-G
• MyVariant Identifiers: chr19:g.6679556A>G (hg19) ; chr19:g.6679545A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6679545A>G , CM000681.2:g.6679545A>G	GRCh38
NC_000019.9:g.6679556A>G , CM000681.1:g.6679556A>G	GRCh37
NC_000019.8:g.6630556A>G	NCBI36
NG_009557.1:g.46107T>C , LRG_27:g.46107T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2805-49T>C
ENST00000695653.1:c.2366-49T>C	ENSP00000512084.1:n.2366-49T>C
ENST00000695654.1:c.3482-49T>C	ENSP00000512085.1:n.3482-49T>C
ENST00000695689.1:c.428-49T>C	ENSP00000512101.1:n.428-49T>C
ENST00000695690.1:n.1522-49T>C
ENST00000695691.1:n.1318-49T>C
ENST00000245907.11:c.4457-49T>C MANE Select	ENSP00000245907.4:n.4457-49T>C
ENST00000245907.10:c.4457-49T>C	ENSP00000245907.4:n.4457-49T>C
ENST00000599668.1:n.52-49T>C
ENST00000599899.5:n.1416-49T>C
ENST00000601008.1:c.242-1587T>C	ENSP00000471384.1:n.242-1587T>C
NM_000064.3:c.4457-49T>C	NP_000055.2:n.4457-49T>C
NM_000064.4:c.4457-49T>C MANE Select	NP_000055.2:n.4457-49T>C