Canonical Allele Identifier: CA9129053

Gene: C3

Linked Data

• dbSNP Id: rs200388595
• ExAC: 19:6697740 G / T
• gnomAD v2: 19-6697740-G-T
• gnomAD v4: 19-6697729-G-T
• MyVariant Identifiers: chr19:g.6697740G>T (hg19) ; chr19:g.6697729G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6697729G>T , CM000681.2:g.6697729G>T	GRCh38
NC_000019.9:g.6697740G>T , CM000681.1:g.6697740G>T	GRCh37
NC_000019.8:g.6648740G>T	NCBI36
NG_009557.1:g.27923C>A , LRG_27:g.27923C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000695651.1:n.854C>A
ENST00000695652.1:c.2383C>A	ENSP00000512083.1:p.Pro795Thr
ENST00000695653.1:c.415C>A	ENSP00000512084.1:p.Pro139Thr
ENST00000695654.1:c.1630C>A	ENSP00000512085.1:p.Pro544Thr
ENST00000695655.1:c.1447C>A	ENSP00000512086.1:n.1447C>A
ENST00000695692.1:n.1870C>A
ENST00000245907.11:c.2506C>A MANE Select	ENSP00000245907.4:p.Pro836Thr
ENST00000245907.10:c.2506C>A	ENSP00000245907.4:p.Pro836Thr
ENST00000602053.1:n.554C>A
NM_000064.3:c.2506C>A	NP_000055.2:p.Pro836Thr
NM_000064.4:c.2506C>A MANE Select	NP_000055.2:p.Pro836Thr