Canonical Allele Identifier: CA505192338

Gene: C3

Linked Data

• dbSNP Id: rs1383099095
• gnomAD v3: 19-6697473-G-C
• gnomAD v4: 19-6697473-G-C
• MyVariant Identifiers: chr19:g.6697484G>C (hg19) ; chr19:g.6697473G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6697473G>C , CM000681.2:g.6697473G>C	GRCh38
NC_000019.9:g.6697484G>C , CM000681.1:g.6697484G>C	GRCh37
NC_000019.8:g.6648484G>C	NCBI36
NG_009557.1:g.28179C>G , LRG_27:g.28179C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.1015C>G
ENST00000695652.1:c.2544C>G	ENSP00000512083.1:p.Pro848=
ENST00000695653.1:c.576C>G	ENSP00000512084.1:p.Pro192=
ENST00000695654.1:c.1791C>G	ENSP00000512085.1:p.Pro597=
ENST00000695655.1:c.1608C>G	ENSP00000512086.1:n.1608C>G
ENST00000695692.1:n.2031C>G
ENST00000245907.11:c.2667C>G MANE Select	ENSP00000245907.4:p.Pro889=
ENST00000245907.10:c.2667C>G	ENSP00000245907.4:p.Pro889=
ENST00000594005.1:n.243C>G
NM_000064.3:c.2667C>G	NP_000055.2:p.Pro889=
NM_000064.4:c.2667C>G MANE Select	NP_000055.2:p.Pro889=