Canonical Allele Identifier: CA9128436

Gene: C3

Linked Data

• dbSNP Id: rs777880161
• ExAC: 19:6681970 G / A
• gnomAD v2: 19-6681970-G-A
• gnomAD v3: 19-6681959-G-A
• gnomAD v4: 19-6681959-G-A
• MyVariant Identifiers: chr19:g.6681970G>A (hg19) ; chr19:g.6681959G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6681959G>A , CM000681.2:g.6681959G>A	GRCh38
NC_000019.9:g.6681970G>A , CM000681.1:g.6681970G>A	GRCh37
NC_000019.8:g.6632970G>A	NCBI36
NG_009557.1:g.43693C>T , LRG_27:g.43693C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2680C>T
ENST00000695653.1:c.2241C>T	ENSP00000512084.1:p.Leu747=
ENST00000695654.1:c.3357C>T	ENSP00000512085.1:p.Leu1119=
ENST00000695689.1:c.303C>T	ENSP00000512101.1:n.303C>T
ENST00000695690.1:n.523C>T
ENST00000695691.1:n.523C>T
ENST00000245907.11:c.4332C>T MANE Select	ENSP00000245907.4:p.Leu1444=
ENST00000245907.10:c.4332C>T	ENSP00000245907.4:p.Leu1444=
ENST00000596548.1:c.453C>T	ENSP00000469744.1:p.Leu151=
ENST00000599899.5:n.1291C>T
ENST00000601008.1:c.242-4001C>T	ENSP00000471384.1:n.242-4001C>T
NM_000064.3:c.4332C>T	NP_000055.2:p.Leu1444=
NM_000064.4:c.4332C>T MANE Select	NP_000055.2:p.Leu1444=