Canonical Allele Identifier: CA884128515
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs1483591278
gnomAD v3: 19-6679568-A-G
gnomAD v4: 19-6679568-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6679568A>G , CM000681.2:g.6679568A>G GRCh38
NC_000019.9:g.6679579A>G , CM000681.1:g.6679579A>G GRCh37
NC_000019.8:g.6630579A>G NCBI36
NG_009557.1:g.46084T>C , LRG_27:g.46084T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2805-72T>C
ENST00000695653.1:c.2366-72T>C ENSP00000512084.1:n.2366-72T>C
ENST00000695654.1:c.3482-72T>C ENSP00000512085.1:n.3482-72T>C
ENST00000695689.1:c.428-72T>C ENSP00000512101.1:n.428-72T>C
ENST00000695690.1:n.1522-72T>C
ENST00000695691.1:n.1318-72T>C
ENST00000245907.11:c.4457-72T>C MANE Select ENSP00000245907.4:n.4457-72T>C
ENST00000245907.10:c.4457-72T>C ENSP00000245907.4:n.4457-72T>C
ENST00000599668.1:n.52-72T>C
ENST00000599899.5:n.1416-72T>C
ENST00000601008.1:c.242-1610T>C ENSP00000471384.1:n.242-1610T>C
NM_000064.3:c.4457-72T>C NP_000055.2:n.4457-72T>C
NM_000064.4:c.4457-72T>C MANE Select NP_000055.2:n.4457-72T>C