Canonical Allele Identifier: CA505124738

Gene: C3

Linked Data

• ClinVar Variation Id: 2088597
• ClinVar RCV Id: RCV003011719
• MyVariant Identifiers: chr19:g.6709695C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6709684C>T , CM000681.2:g.6709684C>T	GRCh38
NC_000019.9:g.6709695C>T , CM000681.1:g.6709695C>T	GRCh37
NC_000019.8:g.6660695C>T	NCBI36
NG_009557.1:g.15968G>A , LRG_27:g.15968G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000695652.1:c.1722G>A	ENSP00000512083.1:p.Lys574=
ENST00000695654.1:c.969G>A	ENSP00000512085.1:p.Lys323=
ENST00000695655.1:c.786G>A	ENSP00000512086.1:n.786G>A
ENST00000695692.1:n.1209G>A
ENST00000245907.11:c.1845G>A MANE Select	ENSP00000245907.4:p.Lys615=
ENST00000245907.10:c.1845G>A	ENSP00000245907.4:p.Lys615=
NM_000064.3:c.1845G>A	NP_000055.2:p.Lys615=
NM_000064.4:c.1845G>A MANE Select	NP_000055.2:p.Lys615=