Canonical Allele Identifier: CA403619631

Gene: C3

Linked Data

• gnomAD v4: 19-6686185-G-A
• MyVariant Identifiers: chr19:g.6686196G>A (hg19) ; chr19:g.6686185G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6686185G>A , CM000681.2:g.6686185G>A	GRCh38
NC_000019.9:g.6686196G>A , CM000681.1:g.6686196G>A	GRCh37
NC_000019.8:g.6637196G>A	NCBI36
NG_009557.1:g.39467C>T , LRG_27:g.39467C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2097C>T
ENST00000695652.1:c.3626C>T	ENSP00000512083.1:p.Pro1209Leu
ENST00000695653.1:c.1658C>T	ENSP00000512084.1:p.Pro553Leu
ENST00000695654.1:c.2774C>T	ENSP00000512085.1:p.Pro925Leu
ENST00000695655.1:c.2690C>T	ENSP00000512086.1:n.2690C>T
ENST00000695692.1:n.3113C>T
ENST00000245907.11:c.3749C>T MANE Select	ENSP00000245907.4:p.Pro1250Leu
ENST00000245907.10:c.3749C>T	ENSP00000245907.4:p.Pro1250Leu
ENST00000596238.1:n.192C>T
ENST00000601008.1:c.241+561C>T	ENSP00000471384.1:n.241+561C>T
NM_000064.3:c.3749C>T	NP_000055.2:p.Pro1250Leu
NM_000064.4:c.3749C>T MANE Select	NP_000055.2:p.Pro1250Leu