Canonical Allele Identifier: CA631722108
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs1473557230
gnomAD v2: 19-6713340-G-T
gnomAD v4: 19-6713329-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6713329G>T , CM000681.2:g.6713329G>T GRCh38
NC_000019.9:g.6713340G>T , CM000681.1:g.6713340G>T GRCh37
NC_000019.8:g.6664340G>T NCBI36
NG_009557.1:g.12323C>A , LRG_27:g.12323C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.754-14C>A ENSP00000512083.1:n.754-14C>A
ENST00000695692.1:n.201-14C>A
ENST00000245907.11:c.877-14C>A MANE Select ENSP00000245907.4:n.877-14C>A
ENST00000245907.10:c.877-14C>A ENSP00000245907.4:n.877-14C>A
ENST00000595577.1:n.381-14C>A
ENST00000597442.5:n.127-14C>A
NM_000064.3:c.877-14C>A NP_000055.2:n.877-14C>A
NM_000064.4:c.877-14C>A MANE Select NP_000055.2:n.877-14C>A