Canonical Allele Identifier: CA304772837
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs950466120
gnomAD v3: 19-6681849-C-T
gnomAD v4: 19-6681849-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6681849C>T , CM000681.2:g.6681849C>T GRCh38
NC_000019.9:g.6681860C>T , CM000681.1:g.6681860C>T GRCh37
NC_000019.8:g.6632860C>T NCBI36
NG_009557.1:g.43803G>A , LRG_27:g.43803G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2698+92G>A
ENST00000695653.1:c.2259+92G>A ENSP00000512084.1:n.2259+92G>A
ENST00000695654.1:c.3375+92G>A ENSP00000512085.1:n.3375+92G>A
ENST00000695689.1:c.321+92G>A ENSP00000512101.1:n.321+92G>A
ENST00000695690.1:n.633G>A
ENST00000695691.1:n.633G>A
ENST00000245907.11:c.4350+92G>A MANE Select ENSP00000245907.4:n.4350+92G>A
ENST00000245907.10:c.4350+92G>A ENSP00000245907.4:n.4350+92G>A
ENST00000596548.1:c.471+92G>A ENSP00000469744.1:n.471+92G>A
ENST00000599899.5:n.1309+92G>A
ENST00000601008.1:c.242-3891G>A ENSP00000471384.1:n.242-3891G>A
NM_000064.3:c.4350+92G>A NP_000055.2:n.4350+92G>A
NM_000064.4:c.4350+92G>A MANE Select NP_000055.2:n.4350+92G>A