Canonical Allele Identifier: CA2587873364
Gene: C3 HGNC NCBI

Linked Data

gnomAD v4: 19-6686018-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6686018G>T , CM000681.2:g.6686018G>T GRCh38
NC_000019.9:g.6686029G>T , CM000681.1:g.6686029G>T GRCh37
NC_000019.8:g.6637029G>T NCBI36
NG_009557.1:g.39634C>A , LRG_27:g.39634C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000695651.1:n.2158+106C>A
ENST00000695653.1:c.1719+106C>A ENSP00000512084.1:n.1719+106C>A
ENST00000695654.1:c.2835+106C>A ENSP00000512085.1:n.2835+106C>A
ENST00000245907.11:c.3810+106C>A MANE Select ENSP00000245907.4:n.3810+106C>A
ENST00000245907.10:c.3810+106C>A ENSP00000245907.4:n.3810+106C>A
ENST00000596238.1:n.253+106C>A
ENST00000601008.1:c.241+728C>A ENSP00000471384.1:n.241+728C>A
NM_000064.3:c.3810+106C>A NP_000055.2:n.3810+106C>A
NM_000064.4:c.3810+106C>A MANE Select NP_000055.2:n.3810+106C>A
Search 100 bp 5'
Search 100 bp 3'