Canonical Allele Identifier: CA304773377
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs11569551
gnomAD v2: 19-6682873-G-A
gnomAD v3: 19-6682862-G-A
gnomAD v4: 19-6682862-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6682862G>A , CM000681.2:g.6682862G>A GRCh38
NC_000019.9:g.6682873G>A , CM000681.1:g.6682873G>A GRCh37
NC_000019.8:g.6633873G>A NCBI36
NG_009557.1:g.42790C>T , LRG_27:g.42790C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000695651.1:n.2521-633C>T
ENST00000695653.1:c.2082-633C>T ENSP00000512084.1:n.2082-633C>T
ENST00000695654.1:c.3198-633C>T ENSP00000512085.1:n.3198-633C>T
ENST00000695689.1:c.84-196C>T ENSP00000512101.1:n.84-196C>T
ENST00000695690.1:n.364-633C>T
ENST00000695691.1:n.364-633C>T
ENST00000245907.11:c.4173-633C>T MANE Select ENSP00000245907.4:n.4173-633C>T
ENST00000245907.10:c.4173-633C>T ENSP00000245907.4:n.4173-633C>T
ENST00000596548.1:c.294-633C>T ENSP00000469744.1:n.294-633C>T
ENST00000599899.5:n.499C>T
ENST00000601008.1:c.241+3884C>T ENSP00000471384.1:n.241+3884C>T
NM_000064.3:c.4173-633C>T NP_000055.2:n.4173-633C>T
NM_000064.4:c.4173-633C>T MANE Select NP_000055.2:n.4173-633C>T