Canonical Allele Identifier: CA9129058

Gene: C3

Linked Data

• dbSNP Id: rs759210955
• ExAC: 19:6697755 T / G
• gnomAD v2: 19-6697755-T-G
• MyVariant Identifiers: chr19:g.6697755T>G (hg19) ; chr19:g.6697744T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6697744T>G , CM000681.2:g.6697744T>G	GRCh38
NC_000019.9:g.6697755T>G , CM000681.1:g.6697755T>G	GRCh37
NC_000019.8:g.6648755T>G	NCBI36
NG_009557.1:g.27908A>C , LRG_27:g.27908A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.839A>C
ENST00000695652.1:c.2368A>C	ENSP00000512083.1:p.Ile790Leu
ENST00000695653.1:c.400A>C	ENSP00000512084.1:p.Ile134Leu
ENST00000695654.1:c.1615A>C	ENSP00000512085.1:p.Ile539Leu
ENST00000695655.1:c.1432A>C	ENSP00000512086.1:n.1432A>C
ENST00000695692.1:n.1855A>C
ENST00000245907.11:c.2491A>C MANE Select	ENSP00000245907.4:p.Ile831Leu
ENST00000245907.10:c.2491A>C	ENSP00000245907.4:p.Ile831Leu
ENST00000602053.1:n.539A>C
NM_000064.3:c.2491A>C	NP_000055.2:p.Ile831Leu
NM_000064.4:c.2491A>C MANE Select	NP_000055.2:p.Ile831Leu