Canonical Allele Identifier: CA2813445892
Gene: C3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6679107dup , CM000681.2:g.6679107dup GRCh38
NC_000019.9:g.6679118dup , CM000681.1:g.6679118dup GRCh37
NC_000019.8:g.6630118dup NCBI36
NG_009557.1:g.46549dup , LRG_27:g.46549dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2978+22dup
ENST00000695653.1:c.2539+22dup ENSP00000512084.1:n.2539+22dup
ENST00000695654.1:c.3655+22dup ENSP00000512085.1:n.3655+22dup
ENST00000695689.1:c.601+22dup ENSP00000512101.1:n.601+22dup
ENST00000695690.1:n.1695+22dup
ENST00000695691.1:n.1491+22dup
ENST00000245907.11:c.4630+22dup MANE Select ENSP00000245907.4:n.4630+22dup
ENST00000245907.10:c.4630+22dup ENSP00000245907.4:n.4630+22dup
ENST00000599668.1:n.250+22dup
ENST00000599899.5:n.1589+22dup
ENST00000601008.1:c.242-1145dup ENSP00000471384.1:n.242-1145dup
ENST00000602229.1:c.77+22dup
NM_000064.3:c.4630+22dup NP_000055.2:n.4630+22dup
NM_000064.4:c.4630+22dup MANE Select NP_000055.2:n.4630+22dup