Canonical Allele Identifier: CA2587871791
Gene: C3 HGNC NCBI

Linked Data

gnomAD v4: 19-6679326-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6679326G>T , CM000681.2:g.6679326G>T GRCh38
NC_000019.9:g.6679337G>T , CM000681.1:g.6679337G>T GRCh37
NC_000019.8:g.6630337G>T NCBI36
NG_009557.1:g.46326C>A , LRG_27:g.46326C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000695651.1:n.2894+81C>A
ENST00000695653.1:c.2455+81C>A ENSP00000512084.1:n.2455+81C>A
ENST00000695654.1:c.3571+81C>A ENSP00000512085.1:n.3571+81C>A
ENST00000695689.1:c.517+81C>A ENSP00000512101.1:n.517+81C>A
ENST00000695690.1:n.1611+81C>A
ENST00000695691.1:n.1407+81C>A
ENST00000245907.11:c.4546+81C>A MANE Select ENSP00000245907.4:n.4546+81C>A
ENST00000245907.10:c.4546+81C>A ENSP00000245907.4:n.4546+81C>A
ENST00000599668.1:n.166+56C>A
ENST00000599899.5:n.1505+81C>A
ENST00000601008.1:c.242-1368C>A ENSP00000471384.1:n.242-1368C>A
NM_000064.3:c.4546+81C>A NP_000055.2:n.4546+81C>A
NM_000064.4:c.4546+81C>A MANE Select NP_000055.2:n.4546+81C>A