Canonical Allele Identifier: CA2587872350
Gene: C3 HGNC NCBI

Linked Data

gnomAD v4: 19-6682399-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6682399A>G , CM000681.2:g.6682399A>G GRCh38
NC_000019.9:g.6682410A>G , CM000681.1:g.6682410A>G GRCh37
NC_000019.8:g.6633410A>G NCBI36
NG_009557.1:g.43253T>C , LRG_27:g.43253T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2521-170T>C
ENST00000695653.1:c.2082-170T>C ENSP00000512084.1:n.2082-170T>C
ENST00000695654.1:c.3198-170T>C ENSP00000512085.1:n.3198-170T>C
ENST00000695689.1:c.144-170T>C ENSP00000512101.1:n.144-170T>C
ENST00000695690.1:n.364-170T>C
ENST00000695691.1:n.364-170T>C
ENST00000245907.11:c.4173-170T>C MANE Select ENSP00000245907.4:n.4173-170T>C
ENST00000245907.10:c.4173-170T>C ENSP00000245907.4:n.4173-170T>C
ENST00000596548.1:c.294-170T>C ENSP00000469744.1:n.294-170T>C
ENST00000599899.5:n.962T>C
ENST00000601008.1:c.241+4347T>C ENSP00000471384.1:n.241+4347T>C
NM_000064.3:c.4173-170T>C NP_000055.2:n.4173-170T>C
NM_000064.4:c.4173-170T>C MANE Select NP_000055.2:n.4173-170T>C