Canonical Allele Identifier: CA2576591819
Gene: C3 HGNC NCBI

Linked Data

gnomAD v4: 19-6681911-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6681911G>T , CM000681.2:g.6681911G>T GRCh38
NC_000019.9:g.6681922G>T , CM000681.1:g.6681922G>T GRCh37
NC_000019.8:g.6632922G>T NCBI36
NG_009557.1:g.43741C>A , LRG_27:g.43741C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2698+30C>A
ENST00000695653.1:c.2259+30C>A ENSP00000512084.1:n.2259+30C>A
ENST00000695654.1:c.3375+30C>A ENSP00000512085.1:n.3375+30C>A
ENST00000695689.1:c.321+30C>A ENSP00000512101.1:n.321+30C>A
ENST00000695690.1:n.571C>A
ENST00000695691.1:n.571C>A
ENST00000245907.11:c.4350+30C>A MANE Select ENSP00000245907.4:n.4350+30C>A
ENST00000245907.10:c.4350+30C>A ENSP00000245907.4:n.4350+30C>A
ENST00000596548.1:c.471+30C>A ENSP00000469744.1:n.471+30C>A
ENST00000599899.5:n.1309+30C>A
ENST00000601008.1:c.242-3953C>A ENSP00000471384.1:n.242-3953C>A
NM_000064.3:c.4350+30C>A NP_000055.2:n.4350+30C>A
NM_000064.4:c.4350+30C>A MANE Select NP_000055.2:n.4350+30C>A