Canonical Allele Identifier: CA2587871692
Gene: C3 HGNC NCBI

Linked Data

gnomAD v4: 19-6679056-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6679056C>T , CM000681.2:g.6679056C>T GRCh38
NC_000019.9:g.6679067C>T , CM000681.1:g.6679067C>T GRCh37
NC_000019.8:g.6630067C>T NCBI36
NG_009557.1:g.46596G>A , LRG_27:g.46596G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2978+69G>A
ENST00000695653.1:c.2539+69G>A ENSP00000512084.1:n.2539+69G>A
ENST00000695654.1:c.3655+69G>A ENSP00000512085.1:n.3655+69G>A
ENST00000695689.1:c.601+69G>A ENSP00000512101.1:n.601+69G>A
ENST00000695690.1:n.1695+69G>A
ENST00000695691.1:n.1491+69G>A
ENST00000245907.11:c.4630+69G>A MANE Select ENSP00000245907.4:n.4630+69G>A
ENST00000245907.10:c.4630+69G>A ENSP00000245907.4:n.4630+69G>A
ENST00000599668.1:n.250+69G>A
ENST00000599899.5:n.1589+69G>A
ENST00000601008.1:c.242-1098G>A ENSP00000471384.1:n.242-1098G>A
ENST00000602229.1:c.77+69G>A
NM_000064.3:c.4630+69G>A NP_000055.2:n.4630+69G>A
NM_000064.4:c.4630+69G>A MANE Select NP_000055.2:n.4630+69G>A