Canonical Allele Identifier: CA403619814

Gene: C3

Linked Data

• gnomAD v4: 19-6686215-A-G
• MyVariant Identifiers: chr19:g.6686226A>G (hg19) ; chr19:g.6686215A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6686215A>G , CM000681.2:g.6686215A>G	GRCh38
NC_000019.9:g.6686226A>G , CM000681.1:g.6686226A>G	GRCh37
NC_000019.8:g.6637226A>G	NCBI36
NG_009557.1:g.39437T>C , LRG_27:g.39437T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2067T>C
ENST00000695652.1:c.3596T>C	ENSP00000512083.1:p.Leu1199Pro
ENST00000695653.1:c.1628T>C	ENSP00000512084.1:p.Leu543Pro
ENST00000695654.1:c.2744T>C	ENSP00000512085.1:p.Leu915Pro
ENST00000695655.1:c.2660T>C	ENSP00000512086.1:n.2660T>C
ENST00000695692.1:n.3083T>C
ENST00000245907.11:c.3719T>C MANE Select	ENSP00000245907.4:p.Leu1240Pro
ENST00000245907.10:c.3719T>C	ENSP00000245907.4:p.Leu1240Pro
ENST00000596238.1:n.162T>C
ENST00000601008.1:c.241+531T>C	ENSP00000471384.1:n.241+531T>C
NM_000064.3:c.3719T>C	NP_000055.2:p.Leu1240Pro
NM_000064.4:c.3719T>C MANE Select	NP_000055.2:p.Leu1240Pro