Canonical Allele Identifier: CA14724675
Gene: C3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1242784
ClinVar RCV Id: RCV001641588
dbSNP Id: rs2241391
gnomAD v2: 19-6686504-C-T
gnomAD v3: 19-6686493-C-T
gnomAD v4: 19-6686493-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6686493C>T , CM000681.2:g.6686493C>T GRCh38
NC_000019.9:g.6686504C>T , CM000681.1:g.6686504C>T GRCh37
NC_000019.8:g.6637504C>T NCBI36
NG_009557.1:g.39159G>A , LRG_27:g.39159G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000695651.1:n.1995-206G>A
ENST00000695652.1:c.3524-206G>A ENSP00000512083.1:n.3524-206G>A
ENST00000695653.1:c.1556-206G>A ENSP00000512084.1:n.1556-206G>A
ENST00000695654.1:c.2672-206G>A ENSP00000512085.1:n.2672-206G>A
ENST00000695655.1:c.2588-206G>A ENSP00000512086.1:n.2588-206G>A
ENST00000695692.1:n.3011-206G>A
ENST00000245907.11:c.3647-206G>A MANE Select ENSP00000245907.4:n.3647-206G>A
ENST00000245907.10:c.3647-206G>A ENSP00000245907.4:n.3647-206G>A
ENST00000598805.2:n.669G>A
ENST00000601008.1:c.241+253G>A ENSP00000471384.1:n.241+253G>A
NM_000064.3:c.3647-206G>A NP_000055.2:n.3647-206G>A
NM_000064.4:c.3647-206G>A MANE Select NP_000055.2:n.3647-206G>A