Canonical Allele Identifier: CA9128637
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs758230051
gnomAD v2: 19-6686129-A-C
gnomAD v4: 19-6686118-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6686118A>C , CM000681.2:g.6686118A>C GRCh38
NC_000019.9:g.6686129A>C , CM000681.1:g.6686129A>C GRCh37
NC_000019.8:g.6637129A>C NCBI36
NG_009557.1:g.39534T>G , LRG_27:g.39534T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2158+6T>G
ENST00000695653.1:c.1719+6T>G ENSP00000512084.1:n.1719+6T>G
ENST00000695654.1:c.2835+6T>G ENSP00000512085.1:n.2835+6T>G
ENST00000695692.1:n.3180T>G
ENST00000245907.11:c.3810+6T>G MANE Select ENSP00000245907.4:n.3810+6T>G
ENST00000245907.10:c.3810+6T>G ENSP00000245907.4:n.3810+6T>G
ENST00000596238.1:n.253+6T>G
ENST00000601008.1:c.241+628T>G ENSP00000471384.1:n.241+628T>G
NM_000064.3:c.3810+6T>G NP_000055.2:n.3810+6T>G
NM_000064.4:c.3810+6T>G MANE Select NP_000055.2:n.3810+6T>G