Canonical Allele Identifier: CA127064
Gene: C3 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 17057
dbSNP Id: rs1047286

User contributed link-outs

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
NM_000064.3:c.941C>T VV NP_000055.2: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