Canonical Allele Identifier: CA993064674

Gene: C3

Linked Data

• dbSNP Id: rs1917899129
• gnomAD v3: 19-6682852-A-G
• gnomAD v4: 19-6682852-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6682852A>G , CM000681.2:g.6682852A>G	GRCh38
NC_000019.9:g.6682863A>G , CM000681.1:g.6682863A>G	GRCh37
NC_000019.8:g.6633863A>G	NCBI36
NG_009557.1:g.42800T>C , LRG_27:g.42800T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000695651.1:n.2521-623T>C
ENST00000695653.1:c.2082-623T>C	ENSP00000512084.1:n.2082-623T>C
ENST00000695654.1:c.3198-623T>C	ENSP00000512085.1:n.3198-623T>C
ENST00000695689.1:c.84-186T>C	ENSP00000512101.1:n.84-186T>C
ENST00000695690.1:n.364-623T>C
ENST00000695691.1:n.364-623T>C
ENST00000245907.11:c.4173-623T>C MANE Select	ENSP00000245907.4:n.4173-623T>C
ENST00000245907.10:c.4173-623T>C	ENSP00000245907.4:n.4173-623T>C
ENST00000596548.1:c.294-623T>C	ENSP00000469744.1:n.294-623T>C
ENST00000599899.5:n.509T>C
ENST00000601008.1:c.241+3894T>C	ENSP00000471384.1:n.241+3894T>C
NM_000064.3:c.4173-623T>C	NP_000055.2:n.4173-623T>C
NM_000064.4:c.4173-623T>C MANE Select	NP_000055.2:n.4173-623T>C