Canonical Allele Identifier: CA403642292

Gene: C3

Linked Data

• MyVariant Identifiers: chr19:g.6713302C>G (hg19) ; chr19:g.6713291C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6713291C>G , CM000681.2:g.6713291C>G	GRCh38
NC_000019.9:g.6713302C>G , CM000681.1:g.6713302C>G	GRCh37
NC_000019.8:g.6664302C>G	NCBI36
NG_009557.1:g.12361G>C , LRG_27:g.12361G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.778G>C	ENSP00000512083.1:p.Val260Leu
ENST00000695654.1:c.25G>C	ENSP00000512085.1:p.Val9Leu
ENST00000695692.1:n.225G>C
ENST00000245907.11:c.901G>C MANE Select	ENSP00000245907.4:p.Val301Leu
ENST00000245907.10:c.901G>C	ENSP00000245907.4:p.Val301Leu
ENST00000594270.5:n.25G>C
ENST00000595577.1:n.405G>C
ENST00000597442.5:n.151G>C
NM_000064.3:c.901G>C	NP_000055.2:p.Val301Leu
NM_000064.4:c.901G>C MANE Select	NP_000055.2:p.Val301Leu