Canonical Allele Identifier: CA2587871657
Gene: C3 HGNC NCBI

Linked Data

gnomAD v4: 19-6679012-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6679012A>G , CM000681.2:g.6679012A>G GRCh38
NC_000019.9:g.6679023A>G , CM000681.1:g.6679023A>G GRCh37
NC_000019.8:g.6630023A>G NCBI36
NG_009557.1:g.46640T>C , LRG_27:g.46640T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2978+113T>C
ENST00000695653.1:c.2539+113T>C ENSP00000512084.1:n.2539+113T>C
ENST00000695654.1:c.3655+113T>C ENSP00000512085.1:n.3655+113T>C
ENST00000695689.1:c.601+113T>C ENSP00000512101.1:n.601+113T>C
ENST00000695690.1:n.1695+113T>C
ENST00000695691.1:n.1491+113T>C
ENST00000245907.11:c.4630+113T>C MANE Select ENSP00000245907.4:n.4630+113T>C
ENST00000245907.10:c.4630+113T>C ENSP00000245907.4:n.4630+113T>C
ENST00000599668.1:n.250+113T>C
ENST00000599899.5:n.1589+113T>C
ENST00000601008.1:c.242-1054T>C ENSP00000471384.1:n.242-1054T>C
ENST00000602229.1:c.77+113T>C
NM_000064.3:c.4630+113T>C NP_000055.2:n.4630+113T>C
NM_000064.4:c.4630+113T>C MANE Select NP_000055.2:n.4630+113T>C