Canonical Allele Identifier: CA304785983

Gene: C3

Linked Data

• dbSNP Id: rs750656770
• MyVariant Identifiers: chr19:g.6697450C>A (hg19) ; chr19:g.6697439C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6697439C>A , CM000681.2:g.6697439C>A	GRCh38
NC_000019.9:g.6697450C>A , CM000681.1:g.6697450C>A	GRCh37
NC_000019.8:g.6648450C>A	NCBI36
NG_009557.1:g.28213G>T , LRG_27:g.28213G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.1049G>T
ENST00000695652.1:c.2578G>T	ENSP00000512083.1:p.Val860Leu
ENST00000695653.1:c.610G>T	ENSP00000512084.1:p.Val204Leu
ENST00000695654.1:c.1825G>T	ENSP00000512085.1:p.Val609Leu
ENST00000695655.1:c.1642G>T	ENSP00000512086.1:n.1642G>T
ENST00000695692.1:n.2065G>T
ENST00000245907.11:c.2701G>T MANE Select	ENSP00000245907.4:p.Val901Leu
ENST00000245907.10:c.2701G>T	ENSP00000245907.4:p.Val901Leu
ENST00000594005.1:n.277G>T
NM_000064.3:c.2701G>T	NP_000055.2:p.Val901Leu
NM_000064.4:c.2701G>T MANE Select	NP_000055.2:p.Val901Leu