Canonical Allele Identifier: CA2587872258
Gene: C3 HGNC NCBI

Linked Data

gnomAD v4: 19-6681901-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6681901G>T , CM000681.2:g.6681901G>T GRCh38
NC_000019.9:g.6681912G>T , CM000681.1:g.6681912G>T GRCh37
NC_000019.8:g.6632912G>T NCBI36
NG_009557.1:g.43751C>A , LRG_27:g.43751C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000695651.1:n.2698+40C>A
ENST00000695653.1:c.2259+40C>A ENSP00000512084.1:n.2259+40C>A
ENST00000695654.1:c.3375+40C>A ENSP00000512085.1:n.3375+40C>A
ENST00000695689.1:c.321+40C>A ENSP00000512101.1:n.321+40C>A
ENST00000695690.1:n.581C>A
ENST00000695691.1:n.581C>A
ENST00000245907.11:c.4350+40C>A MANE Select ENSP00000245907.4:n.4350+40C>A
ENST00000245907.10:c.4350+40C>A ENSP00000245907.4:n.4350+40C>A
ENST00000596548.1:c.471+40C>A ENSP00000469744.1:n.471+40C>A
ENST00000599899.5:n.1309+40C>A
ENST00000601008.1:c.242-3943C>A ENSP00000471384.1:n.242-3943C>A
NM_000064.3:c.4350+40C>A NP_000055.2:n.4350+40C>A
NM_000064.4:c.4350+40C>A MANE Select NP_000055.2:n.4350+40C>A