Canonical Allele Identifier: CA9129629
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs531138636
gnomAD v2: 19-6713344-G-A
gnomAD v3: 19-6713333-G-A
gnomAD v4: 19-6713333-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6713333G>A , CM000681.2:g.6713333G>A GRCh38
NC_000019.9:g.6713344G>A , CM000681.1:g.6713344G>A GRCh37
NC_000019.8:g.6664344G>A NCBI36
NG_009557.1:g.12319C>T , LRG_27:g.12319C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.754-18C>T ENSP00000512083.1:n.754-18C>T
ENST00000695692.1:n.201-18C>T
ENST00000245907.11:c.877-18C>T MANE Select ENSP00000245907.4:n.877-18C>T
ENST00000245907.10:c.877-18C>T ENSP00000245907.4:n.877-18C>T
ENST00000595577.1:n.381-18C>T
ENST00000597442.5:n.127-18C>T
NM_000064.3:c.877-18C>T NP_000055.2:n.877-18C>T
NM_000064.4:c.877-18C>T MANE Select NP_000055.2:n.877-18C>T