Canonical Allele Identifier: CA9128446

Gene: C3

Linked Data

• dbSNP Id: rs763380367
• ExAC: 19:6682036 G / C
• gnomAD v2: 19-6682036-G-C
• gnomAD v4: 19-6682025-G-C
• MyVariant Identifiers: chr19:g.6682036G>C (hg19) ; chr19:g.6682025G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6682025G>C , CM000681.2:g.6682025G>C	GRCh38
NC_000019.9:g.6682036G>C , CM000681.1:g.6682036G>C	GRCh37
NC_000019.8:g.6633036G>C	NCBI36
NG_009557.1:g.43627C>G , LRG_27:g.43627C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2614C>G
ENST00000695653.1:c.2175C>G	ENSP00000512084.1:p.Ala725=
ENST00000695654.1:c.3291C>G	ENSP00000512085.1:p.Ala1097=
ENST00000695689.1:c.237C>G	ENSP00000512101.1:n.237C>G
ENST00000695690.1:n.457C>G
ENST00000695691.1:n.457C>G
ENST00000245907.11:c.4266C>G MANE Select	ENSP00000245907.4:p.Ala1422=
ENST00000245907.10:c.4266C>G	ENSP00000245907.4:p.Ala1422=
ENST00000596548.1:c.387C>G	ENSP00000469744.1:p.Ala129=
ENST00000599899.5:n.1225C>G
ENST00000601008.1:c.242-4067C>G	ENSP00000471384.1:n.242-4067C>G
NM_000064.3:c.4266C>G	NP_000055.2:p.Ala1422=
NM_000064.4:c.4266C>G MANE Select	NP_000055.2:p.Ala1422=