Canonical Allele Identifier: CA403632761

Gene: C3

Linked Data

• ClinVar Variation Id: 3065051
• ClinVar RCV Id: RCV003990128
• gnomAD v4: 19-6697400-C-T
• MyVariant Identifiers: chr19:g.6697411C>T (hg19) ; chr19:g.6697400C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6697400C>T , CM000681.2:g.6697400C>T	GRCh38
NC_000019.9:g.6697411C>T , CM000681.1:g.6697411C>T	GRCh37
NC_000019.8:g.6648411C>T	NCBI36
NG_009557.1:g.28252G>A , LRG_27:g.28252G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.1088G>A
ENST00000695652.1:c.2617G>A	ENSP00000512083.1:p.Ala873Thr
ENST00000695653.1:c.649G>A	ENSP00000512084.1:p.Ala217Thr
ENST00000695654.1:c.1864G>A	ENSP00000512085.1:p.Ala622Thr
ENST00000695655.1:c.1681G>A	ENSP00000512086.1:n.1681G>A
ENST00000695692.1:n.2104G>A
ENST00000245907.11:c.2740G>A MANE Select	ENSP00000245907.4:p.Ala914Thr
ENST00000245907.10:c.2740G>A	ENSP00000245907.4:p.Ala914Thr
ENST00000594005.1:n.316G>A
NM_000064.3:c.2740G>A	NP_000055.2:p.Ala914Thr
NM_000064.4:c.2740G>A MANE Select	NP_000055.2:p.Ala914Thr