Canonical Allele Identifier: CA304784001

Gene: C3

Linked Data

• dbSNP Id: rs1019130765
• gnomAD v3: 19-6694942-A-G
• gnomAD v4: 19-6694942-A-G
• MyVariant Identifiers: chr19:g.6694953A>G (hg19) ; chr19:g.6694942A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6694942A>G , CM000681.2:g.6694942A>G	GRCh38
NC_000019.9:g.6694953A>G , CM000681.1:g.6694953A>G	GRCh37
NC_000019.8:g.6645953A>G	NCBI36
NG_009557.1:g.30710T>C , LRG_27:g.30710T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000695651.1:n.1299-308T>C
ENST00000695652.1:c.2828-308T>C	ENSP00000512083.1:n.2828-308T>C
ENST00000695653.1:c.860-308T>C	ENSP00000512084.1:n.860-308T>C
ENST00000695654.1:c.2075-308T>C	ENSP00000512085.1:n.2075-308T>C
ENST00000695655.1:c.1892-308T>C	ENSP00000512086.1:n.1892-308T>C
ENST00000695692.1:n.2315-308T>C
ENST00000245907.11:c.2951-308T>C MANE Select	ENSP00000245907.4:n.2951-308T>C
ENST00000245907.10:c.2951-308T>C	ENSP00000245907.4:n.2951-308T>C
NM_000064.3:c.2951-308T>C	NP_000055.2:n.2951-308T>C
NM_000064.4:c.2951-308T>C MANE Select	NP_000055.2:n.2951-308T>C