Canonical Allele Identifier: CA9128571

Gene: C3

Linked Data

• dbSNP Id: rs780279120
• ExAC: 19:6684953 A / G
• gnomAD v2: 19-6684953-A-G
• gnomAD v4: 19-6684942-A-G
• MyVariant Identifiers: chr19:g.6684953A>G (hg19) ; chr19:g.6684942A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6684942A>G , CM000681.2:g.6684942A>G	GRCh38
NC_000019.9:g.6684953A>G , CM000681.1:g.6684953A>G	GRCh37
NC_000019.8:g.6635953A>G	NCBI36
NG_009557.1:g.40710T>C , LRG_27:g.40710T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2317+46T>C
ENST00000695653.1:c.1878+46T>C	ENSP00000512084.1:n.1878+46T>C
ENST00000695654.1:c.2994+46T>C	ENSP00000512085.1:n.2994+46T>C
ENST00000695690.1:n.160+46T>C
ENST00000695691.1:n.160+46T>C
ENST00000245907.11:c.3969+46T>C MANE Select	ENSP00000245907.4:n.3969+46T>C
ENST00000245907.10:c.3969+46T>C	ENSP00000245907.4:n.3969+46T>C
ENST00000596238.1:n.412+46T>C
ENST00000596548.1:c.51+46T>C	ENSP00000469744.1:n.51+46T>C
ENST00000601008.1:c.241+1804T>C	ENSP00000471384.1:n.241+1804T>C
NM_000064.3:c.3969+46T>C	NP_000055.2:n.3969+46T>C
NM_000064.4:c.3969+46T>C MANE Select	NP_000055.2:n.3969+46T>C