Canonical Allele Identifier: CA505123703

Gene: C3

Linked Data

• dbSNP Id: rs1463340475
• gnomAD v2: 19-6686228-G-C
• gnomAD v4: 19-6686217-G-C
• MyVariant Identifiers: chr19:g.6686228G>C (hg19) ; chr19:g.6686217G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6686217G>C , CM000681.2:g.6686217G>C	GRCh38
NC_000019.9:g.6686228G>C , CM000681.1:g.6686228G>C	GRCh37
NC_000019.8:g.6637228G>C	NCBI36
NG_009557.1:g.39435C>G , LRG_27:g.39435C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2065C>G
ENST00000695652.1:c.3594C>G	ENSP00000512083.1:p.Ala1198=
ENST00000695653.1:c.1626C>G	ENSP00000512084.1:p.Ala542=
ENST00000695654.1:c.2742C>G	ENSP00000512085.1:p.Ala914=
ENST00000695655.1:c.2658C>G	ENSP00000512086.1:n.2658C>G
ENST00000695692.1:n.3081C>G
ENST00000245907.11:c.3717C>G MANE Select	ENSP00000245907.4:p.Ala1239=
ENST00000245907.10:c.3717C>G	ENSP00000245907.4:p.Ala1239=
ENST00000596238.1:n.160C>G
ENST00000601008.1:c.241+529C>G	ENSP00000471384.1:n.241+529C>G
NM_000064.3:c.3717C>G	NP_000055.2:p.Ala1239=
NM_000064.4:c.3717C>G MANE Select	NP_000055.2:p.Ala1239=