Canonical Allele Identifier: CA2587872745
Gene: C3 HGNC NCBI

Linked Data

gnomAD v4: 19-6682990-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6682990C>T , CM000681.2:g.6682990C>T GRCh38
NC_000019.9:g.6683001C>T , CM000681.1:g.6683001C>T GRCh37
NC_000019.8:g.6634001C>T NCBI36
NG_009557.1:g.42662G>A , LRG_27:g.42662G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000695651.1:n.2521-761G>A
ENST00000695653.1:c.2082-761G>A ENSP00000512084.1:n.2082-761G>A
ENST00000695654.1:c.3198-761G>A ENSP00000512085.1:n.3198-761G>A
ENST00000695689.1:c.84-324G>A ENSP00000512101.1:n.84-324G>A
ENST00000695690.1:n.364-761G>A
ENST00000695691.1:n.364-761G>A
ENST00000245907.11:c.4173-761G>A MANE Select ENSP00000245907.4:n.4173-761G>A
ENST00000245907.10:c.4173-761G>A ENSP00000245907.4:n.4173-761G>A
ENST00000596548.1:c.294-761G>A ENSP00000469744.1:n.294-761G>A
ENST00000599899.5:n.371G>A
ENST00000601008.1:c.241+3756G>A ENSP00000471384.1:n.241+3756G>A
NM_000064.3:c.4173-761G>A NP_000055.2:n.4173-761G>A
NM_000064.4:c.4173-761G>A MANE Select NP_000055.2:n.4173-761G>A