Canonical Allele Identifier: CA304773408
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs979228215
gnomAD v3: 19-6682905-A-G
gnomAD v4: 19-6682905-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6682905A>G , CM000681.2:g.6682905A>G GRCh38
NC_000019.9:g.6682916A>G , CM000681.1:g.6682916A>G GRCh37
NC_000019.8:g.6633916A>G NCBI36
NG_009557.1:g.42747T>C , LRG_27:g.42747T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2521-676T>C
ENST00000695653.1:c.2082-676T>C ENSP00000512084.1:n.2082-676T>C
ENST00000695654.1:c.3198-676T>C ENSP00000512085.1:n.3198-676T>C
ENST00000695689.1:c.84-239T>C ENSP00000512101.1:n.84-239T>C
ENST00000695690.1:n.364-676T>C
ENST00000695691.1:n.364-676T>C
ENST00000245907.11:c.4173-676T>C MANE Select ENSP00000245907.4:n.4173-676T>C
ENST00000245907.10:c.4173-676T>C ENSP00000245907.4:n.4173-676T>C
ENST00000596548.1:c.294-676T>C ENSP00000469744.1:n.294-676T>C
ENST00000599899.5:n.456T>C
ENST00000601008.1:c.241+3841T>C ENSP00000471384.1:n.241+3841T>C
NM_000064.3:c.4173-676T>C NP_000055.2:n.4173-676T>C
NM_000064.4:c.4173-676T>C MANE Select NP_000055.2:n.4173-676T>C