Canonical Allele Identifier: CA884129908
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs1245565897
gnomAD v3: 19-6682383-A-G
gnomAD v4: 19-6682383-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6682383A>G , CM000681.2:g.6682383A>G GRCh38
NC_000019.9:g.6682394A>G , CM000681.1:g.6682394A>G GRCh37
NC_000019.8:g.6633394A>G NCBI36
NG_009557.1:g.43269T>C , LRG_27:g.43269T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2521-154T>C
ENST00000695653.1:c.2082-154T>C ENSP00000512084.1:n.2082-154T>C
ENST00000695654.1:c.3198-154T>C ENSP00000512085.1:n.3198-154T>C
ENST00000695689.1:c.144-154T>C ENSP00000512101.1:n.144-154T>C
ENST00000695690.1:n.364-154T>C
ENST00000695691.1:n.364-154T>C
ENST00000245907.11:c.4173-154T>C MANE Select ENSP00000245907.4:n.4173-154T>C
ENST00000245907.10:c.4173-154T>C ENSP00000245907.4:n.4173-154T>C
ENST00000596548.1:c.294-154T>C ENSP00000469744.1:n.294-154T>C
ENST00000599899.5:n.978T>C
ENST00000601008.1:c.241+4363T>C ENSP00000471384.1:n.241+4363T>C
NM_000064.3:c.4173-154T>C NP_000055.2:n.4173-154T>C
NM_000064.4:c.4173-154T>C MANE Select NP_000055.2:n.4173-154T>C