Canonical Allele Identifier: CA9129320

Gene: C3

Linked Data

• dbSNP Id: rs759633108
• ExAC: 19:6709681 T / G
• gnomAD v2: 19-6709681-T-G
• gnomAD v4: 19-6709670-T-G
• MyVariant Identifiers: chr19:g.6709681T>G (hg19) ; chr19:g.6709670T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6709670T>G , CM000681.2:g.6709670T>G	GRCh38
NC_000019.9:g.6709681T>G , CM000681.1:g.6709681T>G	GRCh37
NC_000019.8:g.6660681T>G	NCBI36
NG_009557.1:g.15982A>C , LRG_27:g.15982A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000695652.1:c.1722+14A>C	ENSP00000512083.1:n.1722+14A>C
ENST00000695654.1:c.969+14A>C	ENSP00000512085.1:n.969+14A>C
ENST00000695655.1:c.786+14A>C	ENSP00000512086.1:n.786+14A>C
ENST00000695692.1:n.1209+14A>C
ENST00000245907.11:c.1845+14A>C MANE Select	ENSP00000245907.4:n.1845+14A>C
ENST00000245907.10:c.1845+14A>C	ENSP00000245907.4:n.1845+14A>C
NM_000064.3:c.1845+14A>C	NP_000055.2:n.1845+14A>C
NM_000064.4:c.1845+14A>C MANE Select	NP_000055.2:n.1845+14A>C