Canonical Allele Identifier: CA403642121

Gene: C3

Linked Data

• MyVariant Identifiers: chr19:g.6713237C>G (hg19) ; chr19:g.6713226C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6713226C>G , CM000681.2:g.6713226C>G	GRCh38
NC_000019.9:g.6713237C>G , CM000681.1:g.6713237C>G	GRCh37
NC_000019.8:g.6664237C>G	NCBI36
NG_009557.1:g.12426G>C , LRG_27:g.12426G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.843G>C	ENSP00000512083.1:p.Lys281Asn
ENST00000695654.1:c.90G>C	ENSP00000512085.1:p.Lys30Asn
ENST00000695692.1:n.290G>C
ENST00000245907.11:c.966G>C MANE Select	ENSP00000245907.4:p.Lys322Asn
ENST00000245907.10:c.966G>C	ENSP00000245907.4:p.Lys322Asn
ENST00000594270.5:n.90G>C
ENST00000595577.1:n.470G>C
ENST00000597442.5:n.216G>C
NM_000064.3:c.966G>C	NP_000055.2:p.Lys322Asn
NM_000064.4:c.966G>C MANE Select	NP_000055.2:p.Lys322Asn