Canonical Allele Identifier: CA9129627

Gene: C3

Linked Data

• dbSNP Id: rs757284972
• ExAC: 19:6713335 G / A
• gnomAD v2: 19-6713335-G-A
• gnomAD v4: 19-6713324-G-A
• MyVariant Identifiers: chr19:g.6713335G>A (hg19) ; chr19:g.6713324G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6713324G>A , CM000681.2:g.6713324G>A	GRCh38
NC_000019.9:g.6713335G>A , CM000681.1:g.6713335G>A	GRCh37
NC_000019.8:g.6664335G>A	NCBI36
NG_009557.1:g.12328C>T , LRG_27:g.12328C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.754-9C>T	ENSP00000512083.1:n.754-9C>T
ENST00000695692.1:n.201-9C>T
ENST00000245907.11:c.877-9C>T MANE Select	ENSP00000245907.4:n.877-9C>T
ENST00000245907.10:c.877-9C>T	ENSP00000245907.4:n.877-9C>T
ENST00000595577.1:n.381-9C>T
ENST00000597442.5:n.127-9C>T
NM_000064.3:c.877-9C>T	NP_000055.2:n.877-9C>T
NM_000064.4:c.877-9C>T MANE Select	NP_000055.2:n.877-9C>T