Canonical Allele Identifier: CA2587873333
Gene: C3 HGNC NCBI

Linked Data

gnomAD v4: 19-6685991-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6685991A>G , CM000681.2:g.6685991A>G GRCh38
NC_000019.9:g.6686002A>G , CM000681.1:g.6686002A>G GRCh37
NC_000019.8:g.6637002A>G NCBI36
NG_009557.1:g.39661T>C , LRG_27:g.39661T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2158+133T>C
ENST00000695653.1:c.1719+133T>C ENSP00000512084.1:n.1719+133T>C
ENST00000695654.1:c.2835+133T>C ENSP00000512085.1:n.2835+133T>C
ENST00000245907.11:c.3810+133T>C MANE Select ENSP00000245907.4:n.3810+133T>C
ENST00000245907.10:c.3810+133T>C ENSP00000245907.4:n.3810+133T>C
ENST00000596238.1:n.253+133T>C
ENST00000601008.1:c.241+755T>C ENSP00000471384.1:n.241+755T>C
NM_000064.3:c.3810+133T>C NP_000055.2:n.3810+133T>C
NM_000064.4:c.3810+133T>C MANE Select NP_000055.2:n.3810+133T>C