Canonical Allele Identifier: CA403642627

Gene: C3

Linked Data

• dbSNP Id: rs1967963915
• MyVariant Identifiers: chr19:g.6713470A>G (hg19) ; chr19:g.6713459A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6713459A>G , CM000681.2:g.6713459A>G	GRCh38
NC_000019.9:g.6713470A>G , CM000681.1:g.6713470A>G	GRCh37
NC_000019.8:g.6664470A>G	NCBI36
NG_009557.1:g.12193T>C , LRG_27:g.12193T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.701T>C	ENSP00000512083.1:p.Ile234Thr
ENST00000695692.1:n.148T>C
ENST00000245907.11:c.824T>C MANE Select	ENSP00000245907.4:p.Ile275Thr
ENST00000245907.10:c.824T>C	ENSP00000245907.4:p.Ile275Thr
ENST00000595577.1:n.328T>C
ENST00000597442.5:n.74T>C
NM_000064.3:c.824T>C	NP_000055.2:p.Ile275Thr
NM_000064.4:c.824T>C MANE Select	NP_000055.2:p.Ile275Thr