Canonical Allele Identifier: CA403619331

Gene: C3

Linked Data

• MyVariant Identifiers: chr19:g.6686136T>G (hg19) ; chr19:g.6686125T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6686125T>G , CM000681.2:g.6686125T>G	GRCh38
NC_000019.9:g.6686136T>G , CM000681.1:g.6686136T>G	GRCh37
NC_000019.8:g.6637136T>G	NCBI36
NG_009557.1:g.39527A>C , LRG_27:g.39527A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2157A>C
ENST00000695652.1:c.3686A>C	ENSP00000512083.1:p.Gln1229Pro
ENST00000695653.1:c.1718A>C	ENSP00000512084.1:p.Gln573Pro
ENST00000695654.1:c.2834A>C	ENSP00000512085.1:p.Gln945Pro
ENST00000695655.1:c.2750A>C	ENSP00000512086.1:n.2750A>C
ENST00000695692.1:n.3173A>C
ENST00000245907.11:c.3809A>C MANE Select	ENSP00000245907.4:p.Gln1270Pro
ENST00000245907.10:c.3809A>C	ENSP00000245907.4:p.Gln1270Pro
ENST00000596238.1:n.252A>C
ENST00000601008.1:c.241+621A>C	ENSP00000471384.1:n.241+621A>C
NM_000064.3:c.3809A>C	NP_000055.2:p.Gln1270Pro
NM_000064.4:c.3809A>C MANE Select	NP_000055.2:p.Gln1270Pro