Canonical Allele Identifier: CA304775822

Gene: C3

Linked Data

• dbSNP Id: rs888874386
• MyVariant Identifiers: chr19:g.6686249G>A (hg19) ; chr19:g.6686238G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6686238G>A , CM000681.2:g.6686238G>A	GRCh38
NC_000019.9:g.6686249G>A , CM000681.1:g.6686249G>A	GRCh37
NC_000019.8:g.6637249G>A	NCBI36
NG_009557.1:g.39414C>T , LRG_27:g.39414C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2044C>T
ENST00000695652.1:c.3573C>T	ENSP00000512083.1:p.Ala1191=
ENST00000695653.1:c.1605C>T	ENSP00000512084.1:p.Ala535=
ENST00000695654.1:c.2721C>T	ENSP00000512085.1:p.Ala907=
ENST00000695655.1:c.2637C>T	ENSP00000512086.1:n.2637C>T
ENST00000695692.1:n.3060C>T
ENST00000245907.11:c.3696C>T MANE Select	ENSP00000245907.4:p.Ala1232=
ENST00000245907.10:c.3696C>T	ENSP00000245907.4:p.Ala1232=
ENST00000596238.1:n.139C>T
ENST00000601008.1:c.241+508C>T	ENSP00000471384.1:n.241+508C>T
NM_000064.3:c.3696C>T	NP_000055.2:p.Ala1232=
NM_000064.4:c.3696C>T MANE Select	NP_000055.2:p.Ala1232=