Canonical Allele Identifier: CA403642045

Gene: C3

Linked Data

• MyVariant Identifiers: chr19:g.6713202G>A (hg19) ; chr19:g.6713191G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6713191G>A , CM000681.2:g.6713191G>A	GRCh38
NC_000019.9:g.6713202G>A , CM000681.1:g.6713202G>A	GRCh37
NC_000019.8:g.6664202G>A	NCBI36
NG_009557.1:g.12461C>T , LRG_27:g.12461C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.878C>T	ENSP00000512083.1:p.Ser293Leu
ENST00000695654.1:c.125C>T	ENSP00000512085.1:p.Ser42Leu
ENST00000695692.1:n.325C>T
ENST00000245907.11:c.1001C>T MANE Select	ENSP00000245907.4:p.Ser334Leu
ENST00000245907.10:c.1001C>T	ENSP00000245907.4:p.Ser334Leu
ENST00000594270.5:n.125C>T
ENST00000595577.1:n.505C>T
ENST00000597442.5:n.251C>T
NM_000064.3:c.1001C>T	NP_000055.2:p.Ser334Leu
NM_000064.4:c.1001C>T MANE Select	NP_000055.2:p.Ser334Leu