Canonical Allele Identifier: CA2320552935
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs1568211726
gnomAD v4: 19-6685184-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6685184C>G , CM000681.2:g.6685184C>G GRCh38
NC_000019.9:g.6685195C>G , CM000681.1:g.6685195C>G GRCh37
NC_000019.8:g.6636195C>G NCBI36
NG_009557.1:g.40468G>C , LRG_27:g.40468G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2159-38G>C
ENST00000695653.1:c.1720-38G>C ENSP00000512084.1:n.1720-38G>C
ENST00000695654.1:c.2836-38G>C ENSP00000512085.1:n.2836-38G>C
ENST00000245907.11:c.3811-38G>C MANE Select ENSP00000245907.4:n.3811-38G>C
ENST00000245907.10:c.3811-38G>C ENSP00000245907.4:n.3811-38G>C
ENST00000596238.1:n.254-38G>C
ENST00000601008.1:c.241+1562G>C ENSP00000471384.1:n.241+1562G>C
NM_000064.3:c.3811-38G>C NP_000055.2:n.3811-38G>C
NM_000064.4:c.3811-38G>C MANE Select NP_000055.2:n.3811-38G>C
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