Canonical Allele Identifier: CA2587871652
Gene: C3 HGNC NCBI

Linked Data

gnomAD v4: 19-6679006-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6679006C>A , CM000681.2:g.6679006C>A GRCh38
NC_000019.9:g.6679017C>A , CM000681.1:g.6679017C>A GRCh37
NC_000019.8:g.6630017C>A NCBI36
NG_009557.1:g.46646G>T , LRG_27:g.46646G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2978+119G>T
ENST00000695653.1:c.2539+119G>T ENSP00000512084.1:n.2539+119G>T
ENST00000695654.1:c.3655+119G>T ENSP00000512085.1:n.3655+119G>T
ENST00000695689.1:c.601+119G>T ENSP00000512101.1:n.601+119G>T
ENST00000695690.1:n.1695+119G>T
ENST00000695691.1:n.1491+119G>T
ENST00000245907.11:c.4630+119G>T MANE Select ENSP00000245907.4:n.4630+119G>T
ENST00000245907.10:c.4630+119G>T ENSP00000245907.4:n.4630+119G>T
ENST00000599668.1:n.250+119G>T
ENST00000599899.5:n.1589+119G>T
ENST00000601008.1:c.242-1048G>T ENSP00000471384.1:n.242-1048G>T
ENST00000602229.1:c.77+119G>T
NM_000064.3:c.4630+119G>T NP_000055.2:n.4630+119G>T
NM_000064.4:c.4630+119G>T MANE Select NP_000055.2:n.4630+119G>T