Canonical Allele Identifier: CA127064

Gene: C3

Linked Data

• ClinVar Variation Id: 17057
• ClinVar RCV Id: RCV000018586 ; RCV000286026 ; RCV000321048 ; RCV000380392
• dbSNP Id: rs1047286
• ExAC: 19:6713262 G / A
• gnomAD v2: 19-6713262-G-A
• gnomAD v3: 19-6713251-G-A
• gnomAD v4: 19-6713251-G-A
• MyVariant Identifiers: chr19:g.6713262G>A (hg19) ; chr19:g.6713251G>A (hg38)
• PubMed: PMID:1976733 ; PMID:17634448 ; PMID:18325906 ; PMID:19168221

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6713251G>A , CM000681.2:g.6713251G>A	GRCh38
NC_000019.9:g.6713262G>A , CM000681.1:g.6713262G>A	GRCh37
NC_000019.8:g.6664262G>A	NCBI36
NG_009557.1:g.12401C>T , LRG_27:g.12401C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000695652.1:c.818C>T	ENSP00000512083.1:p.Pro273Leu
ENST00000695654.1:c.65C>T	ENSP00000512085.1:p.Pro22Leu
ENST00000695692.1:n.265C>T
ENST00000245907.11:c.941C>T MANE Select	ENSP00000245907.4:p.Pro314Leu
ENST00000245907.10:c.941C>T	ENSP00000245907.4:p.Pro314Leu
ENST00000594270.5:n.65C>T
ENST00000595577.1:n.445C>T
ENST00000597442.5:n.191C>T
NM_000064.3:c.941C>T	NP_000055.2:p.Pro314Leu
NM_000064.4:c.941C>T MANE Select	NP_000055.2:p.Pro314Leu