Canonical Allele Identifier: CA2587871775
Gene: C3 HGNC NCBI

Linked Data

gnomAD v4: 19-6679317-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6679317A>T , CM000681.2:g.6679317A>T GRCh38
NC_000019.9:g.6679328A>T , CM000681.1:g.6679328A>T GRCh37
NC_000019.8:g.6630328A>T NCBI36
NG_009557.1:g.46335T>A , LRG_27:g.46335T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2894+90T>A
ENST00000695653.1:c.2455+90T>A ENSP00000512084.1:n.2455+90T>A
ENST00000695654.1:c.3571+90T>A ENSP00000512085.1:n.3571+90T>A
ENST00000695689.1:c.517+90T>A ENSP00000512101.1:n.517+90T>A
ENST00000695690.1:n.1611+90T>A
ENST00000695691.1:n.1407+90T>A
ENST00000245907.11:c.4546+90T>A MANE Select ENSP00000245907.4:n.4546+90T>A
ENST00000245907.10:c.4546+90T>A ENSP00000245907.4:n.4546+90T>A
ENST00000599668.1:n.166+65T>A
ENST00000599899.5:n.1505+90T>A
ENST00000601008.1:c.242-1359T>A ENSP00000471384.1:n.242-1359T>A
NM_000064.3:c.4546+90T>A NP_000055.2:n.4546+90T>A
NM_000064.4:c.4546+90T>A MANE Select NP_000055.2:n.4546+90T>A