Canonical Allele Identifier: CA403639278

Gene: C3

Linked Data

• MyVariant Identifiers: chr19:g.6709739C>A (hg19) ; chr19:g.6709728C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6709728C>A , CM000681.2:g.6709728C>A	GRCh38
NC_000019.9:g.6709739C>A , CM000681.1:g.6709739C>A	GRCh37
NC_000019.8:g.6660739C>A	NCBI36
NG_009557.1:g.15924G>T , LRG_27:g.15924G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.1678G>T	ENSP00000512083.1:p.Gly560Cys
ENST00000695654.1:c.925G>T	ENSP00000512085.1:p.Gly309Cys
ENST00000695655.1:c.742G>T	ENSP00000512086.1:n.742G>T
ENST00000695692.1:n.1165G>T
ENST00000245907.11:c.1801G>T MANE Select	ENSP00000245907.4:p.Gly601Cys
ENST00000245907.10:c.1801G>T	ENSP00000245907.4:p.Gly601Cys
NM_000064.3:c.1801G>T	NP_000055.2:p.Gly601Cys
NM_000064.4:c.1801G>T MANE Select	NP_000055.2:p.Gly601Cys