Canonical Allele Identifier: CA993077905

Gene: C3

Linked Data

• dbSNP Id: rs1599525129
• gnomAD v3: 19-6713704-A-C
• gnomAD v4: 19-6713704-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6713704A>C , CM000681.2:g.6713704A>C	GRCh38
NC_000019.9:g.6713715A>C , CM000681.1:g.6713715A>C	GRCh37
NC_000019.8:g.6664715A>C	NCBI36
NG_009557.1:g.11948T>G , LRG_27:g.11948T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.651-195T>G	ENSP00000512083.1:n.651-195T>G
ENST00000245907.11:c.774-195T>G MANE Select	ENSP00000245907.4:n.774-195T>G
ENST00000245907.10:c.774-195T>G	ENSP00000245907.4:n.774-195T>G
ENST00000595577.1:n.278-195T>G
ENST00000597442.5:n.23+62T>G
NM_000064.3:c.774-195T>G	NP_000055.2:n.774-195T>G
NM_000064.4:c.774-195T>G MANE Select	NP_000055.2:n.774-195T>G