Canonical Allele Identifier: CA9129630
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs746860682
gnomAD v2: 19-6713348-C-G
gnomAD v4: 19-6713337-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6713337C>G , CM000681.2:g.6713337C>G GRCh38
NC_000019.9:g.6713348C>G , CM000681.1:g.6713348C>G GRCh37
NC_000019.8:g.6664348C>G NCBI36
NG_009557.1:g.12315G>C , LRG_27:g.12315G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.754-22G>C ENSP00000512083.1:n.754-22G>C
ENST00000695692.1:n.201-22G>C
ENST00000245907.11:c.877-22G>C MANE Select ENSP00000245907.4:n.877-22G>C
ENST00000245907.10:c.877-22G>C ENSP00000245907.4:n.877-22G>C
ENST00000595577.1:n.381-22G>C
ENST00000597442.5:n.127-22G>C
NM_000064.3:c.877-22G>C NP_000055.2:n.877-22G>C
NM_000064.4:c.877-22G>C MANE Select NP_000055.2:n.877-22G>C