Canonical Allele Identifier: CA631722264
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs766979609
gnomAD v2: 19-6684861-A-G
gnomAD v4: 19-6684850-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6684850A>G , CM000681.2:g.6684850A>G GRCh38
NC_000019.9:g.6684861A>G , CM000681.1:g.6684861A>G GRCh37
NC_000019.8:g.6635861A>G NCBI36
NG_009557.1:g.40802T>C , LRG_27:g.40802T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2318-16T>C
ENST00000695653.1:c.1879-16T>C ENSP00000512084.1:n.1879-16T>C
ENST00000695654.1:c.2995-16T>C ENSP00000512085.1:n.2995-16T>C
ENST00000695690.1:n.161-16T>C
ENST00000695691.1:n.161-16T>C
ENST00000245907.11:c.3970-16T>C MANE Select ENSP00000245907.4:n.3970-16T>C
ENST00000245907.10:c.3970-16T>C ENSP00000245907.4:n.3970-16T>C
ENST00000596238.1:n.413-16T>C
ENST00000596548.1:c.52-16T>C ENSP00000469744.1:n.52-16T>C
ENST00000601008.1:c.241+1896T>C ENSP00000471384.1:n.241+1896T>C
NM_000064.3:c.3970-16T>C NP_000055.2:n.3970-16T>C
NM_000064.4:c.3970-16T>C MANE Select NP_000055.2:n.3970-16T>C