Canonical Allele Identifier: CA403619744

Gene: C3

Linked Data

• dbSNP Id: rs1918004400
• MyVariant Identifiers: chr19:g.6686212C>A (hg19) ; chr19:g.6686201C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6686201C>A , CM000681.2:g.6686201C>A	GRCh38
NC_000019.9:g.6686212C>A , CM000681.1:g.6686212C>A	GRCh37
NC_000019.8:g.6637212C>A	NCBI36
NG_009557.1:g.39451G>T , LRG_27:g.39451G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2081G>T
ENST00000695652.1:c.3610G>T	ENSP00000512083.1:p.Asp1204Tyr
ENST00000695653.1:c.1642G>T	ENSP00000512084.1:p.Asp548Tyr
ENST00000695654.1:c.2758G>T	ENSP00000512085.1:p.Asp920Tyr
ENST00000695655.1:c.2674G>T	ENSP00000512086.1:n.2674G>T
ENST00000695692.1:n.3097G>T
ENST00000245907.11:c.3733G>T MANE Select	ENSP00000245907.4:p.Asp1245Tyr
ENST00000245907.10:c.3733G>T	ENSP00000245907.4:p.Asp1245Tyr
ENST00000596238.1:n.176G>T
ENST00000601008.1:c.241+545G>T	ENSP00000471384.1:n.241+545G>T
NM_000064.3:c.3733G>T	NP_000055.2:p.Asp1245Tyr
NM_000064.4:c.3733G>T MANE Select	NP_000055.2:p.Asp1245Tyr