Canonical Allele Identifier: CA403619805

Gene: C3

Linked Data

• gnomAD v4: 19-6686212-A-G
• MyVariant Identifiers: chr19:g.6686223A>G (hg19) ; chr19:g.6686212A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6686212A>G , CM000681.2:g.6686212A>G	GRCh38
NC_000019.9:g.6686223A>G , CM000681.1:g.6686223A>G	GRCh37
NC_000019.8:g.6637223A>G	NCBI36
NG_009557.1:g.39440T>C , LRG_27:g.39440T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2070T>C
ENST00000695652.1:c.3599T>C	ENSP00000512083.1:p.Leu1200Pro
ENST00000695653.1:c.1631T>C	ENSP00000512084.1:p.Leu544Pro
ENST00000695654.1:c.2747T>C	ENSP00000512085.1:p.Leu916Pro
ENST00000695655.1:c.2663T>C	ENSP00000512086.1:n.2663T>C
ENST00000695692.1:n.3086T>C
ENST00000245907.11:c.3722T>C MANE Select	ENSP00000245907.4:p.Leu1241Pro
ENST00000245907.10:c.3722T>C	ENSP00000245907.4:p.Leu1241Pro
ENST00000596238.1:n.165T>C
ENST00000601008.1:c.241+534T>C	ENSP00000471384.1:n.241+534T>C
NM_000064.3:c.3722T>C	NP_000055.2:p.Leu1241Pro
NM_000064.4:c.3722T>C MANE Select	NP_000055.2:p.Leu1241Pro