Canonical Allele Identifier: CA403642234

Gene: C3

Linked Data

• MyVariant Identifiers: chr19:g.6713286A>G (hg19) ; chr19:g.6713275A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6713275A>G , CM000681.2:g.6713275A>G	GRCh38
NC_000019.9:g.6713286A>G , CM000681.1:g.6713286A>G	GRCh37
NC_000019.8:g.6664286A>G	NCBI36
NG_009557.1:g.12377T>C , LRG_27:g.12377T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.794T>C	ENSP00000512083.1:p.Val265Ala
ENST00000695654.1:c.41T>C	ENSP00000512085.1:p.Val14Ala
ENST00000695692.1:n.241T>C
ENST00000245907.11:c.917T>C MANE Select	ENSP00000245907.4:p.Val306Ala
ENST00000245907.10:c.917T>C	ENSP00000245907.4:p.Val306Ala
ENST00000594270.5:n.41T>C
ENST00000595577.1:n.421T>C
ENST00000597442.5:n.167T>C
NM_000064.3:c.917T>C	NP_000055.2:p.Val306Ala
NM_000064.4:c.917T>C MANE Select	NP_000055.2:p.Val306Ala