Canonical Allele Identifier: CA2320568203
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs1599525287
gnomAD v4: 19-6713805-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6713805A>C , CM000681.2:g.6713805A>C GRCh38
NC_000019.9:g.6713816A>C , CM000681.1:g.6713816A>C GRCh37
NC_000019.8:g.6664816A>C NCBI36
NG_009557.1:g.11847T>G , LRG_27:g.11847T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.650+187T>G ENSP00000512083.1:n.650+187T>G
ENST00000245907.11:c.773+187T>G MANE Select ENSP00000245907.4:n.773+187T>G
ENST00000245907.10:c.773+187T>G ENSP00000245907.4:n.773+187T>G
ENST00000595577.1:n.277+187T>G
NM_000064.3:c.773+187T>G NP_000055.2:n.773+187T>G
NM_000064.4:c.773+187T>G MANE Select NP_000055.2:n.773+187T>G