Canonical Allele Identifier: CA403633007

Gene: C3

Linked Data

• ClinVar Variation Id: 2827082
• ClinVar RCV Id: RCV003683542
• MyVariant Identifiers: chr19:g.6697470A>G (hg19) ; chr19:g.6697459A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6697459A>G , CM000681.2:g.6697459A>G	GRCh38
NC_000019.9:g.6697470A>G , CM000681.1:g.6697470A>G	GRCh37
NC_000019.8:g.6648470A>G	NCBI36
NG_009557.1:g.28193T>C , LRG_27:g.28193T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.1029T>C
ENST00000695652.1:c.2558T>C	ENSP00000512083.1:p.Leu853Ser
ENST00000695653.1:c.590T>C	ENSP00000512084.1:p.Leu197Ser
ENST00000695654.1:c.1805T>C	ENSP00000512085.1:p.Leu602Ser
ENST00000695655.1:c.1622T>C	ENSP00000512086.1:n.1622T>C
ENST00000695692.1:n.2045T>C
ENST00000245907.11:c.2681T>C MANE Select	ENSP00000245907.4:p.Leu894Ser
ENST00000245907.10:c.2681T>C	ENSP00000245907.4:p.Leu894Ser
ENST00000594005.1:n.257T>C
NM_000064.3:c.2681T>C	NP_000055.2:p.Leu894Ser
NM_000064.4:c.2681T>C MANE Select	NP_000055.2:p.Leu894Ser