Canonical Allele Identifier: CA275482
Gene: C3 HGNC NCBI

Linked Data

ClinVar Variation Id: 202203
ClinVar RCV Id: RCV000184049
dbSNP Id: rs794729228

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6714208G>A , CM000681.2:g.6714208G>A GRCh38
NC_000019.9:g.6714219G>A , CM000681.1:g.6714219G>A GRCh37
NC_000019.8:g.6665219G>A NCBI36
NG_009557.1:g.11444C>T , LRG_27:g.11444C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000695652.1:c.517C>T ENSP00000512083.1:p.Pro173Ser
ENST00000245907.11:c.640C>T MANE Select ENSP00000245907.4:p.Pro214Ser
ENST00000245907.10:c.640C>T ENSP00000245907.4:p.Pro214Ser
ENST00000595577.1:n.144C>T
NM_000064.3:c.640C>T NP_000055.2:p.Pro214Ser
NM_000064.4:c.640C>T MANE Select NP_000055.2:p.Pro214Ser