Canonical Allele Identifier: CA403632530

Gene: C3

Linked Data

• dbSNP Id: rs1370309409
• gnomAD v2: 19-6697369-A-G
• gnomAD v4: 19-6697358-A-G
• MyVariant Identifiers: chr19:g.6697369A>G (hg19) ; chr19:g.6697358A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6697358A>G , CM000681.2:g.6697358A>G	GRCh38
NC_000019.9:g.6697369A>G , CM000681.1:g.6697369A>G	GRCh37
NC_000019.8:g.6648369A>G	NCBI36
NG_009557.1:g.28294T>C , LRG_27:g.28294T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.1130T>C
ENST00000695652.1:c.2659T>C	ENSP00000512083.1:p.Ser887Pro
ENST00000695653.1:c.691T>C	ENSP00000512084.1:p.Ser231Pro
ENST00000695654.1:c.1906T>C	ENSP00000512085.1:p.Ser636Pro
ENST00000695655.1:c.1723T>C	ENSP00000512086.1:n.1723T>C
ENST00000695692.1:n.2146T>C
ENST00000245907.11:c.2782T>C MANE Select	ENSP00000245907.4:p.Ser928Pro
ENST00000245907.10:c.2782T>C	ENSP00000245907.4:p.Ser928Pro
ENST00000594005.1:n.358T>C
NM_000064.3:c.2782T>C	NP_000055.2:p.Ser928Pro
NM_000064.4:c.2782T>C MANE Select	NP_000055.2:p.Ser928Pro