Canonical Allele Identifier: CA884129912

Gene: C3

Linked Data

• dbSNP Id: rs1242778351
• gnomAD v3: 19-6682432-A-G
• gnomAD v4: 19-6682432-A-G
• MyVariant Identifiers: chr19:g.6682443A>G (hg19) ; chr19:g.6682432A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6682432A>G , CM000681.2:g.6682432A>G	GRCh38
NC_000019.9:g.6682443A>G , CM000681.1:g.6682443A>G	GRCh37
NC_000019.8:g.6633443A>G	NCBI36
NG_009557.1:g.43220T>C , LRG_27:g.43220T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2521-203T>C
ENST00000695653.1:c.2082-203T>C	ENSP00000512084.1:n.2082-203T>C
ENST00000695654.1:c.3198-203T>C	ENSP00000512085.1:n.3198-203T>C
ENST00000695689.1:c.143+175T>C	ENSP00000512101.1:n.143+175T>C
ENST00000695690.1:n.364-203T>C
ENST00000695691.1:n.364-203T>C
ENST00000245907.11:c.4173-203T>C MANE Select	ENSP00000245907.4:n.4173-203T>C
ENST00000245907.10:c.4173-203T>C	ENSP00000245907.4:n.4173-203T>C
ENST00000596548.1:c.294-203T>C	ENSP00000469744.1:n.294-203T>C
ENST00000599899.5:n.929T>C
ENST00000601008.1:c.241+4314T>C	ENSP00000471384.1:n.241+4314T>C
NM_000064.3:c.4173-203T>C	NP_000055.2:n.4173-203T>C
NM_000064.4:c.4173-203T>C MANE Select	NP_000055.2:n.4173-203T>C