Canonical Allele Identifier: CA884132260
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs1203735058
gnomAD v3: 19-6714150-C-A
gnomAD v4: 19-6714150-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6714150C>A , CM000681.2:g.6714150C>A GRCh38
NC_000019.9:g.6714161C>A , CM000681.1:g.6714161C>A GRCh37
NC_000019.8:g.6665161C>A NCBI36
NG_009557.1:g.11502G>T , LRG_27:g.11502G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.559+16G>T ENSP00000512083.1:n.559+16G>T
ENST00000245907.11:c.682+16G>T MANE Select ENSP00000245907.4:n.682+16G>T
ENST00000245907.10:c.682+16G>T ENSP00000245907.4:n.682+16G>T
ENST00000595577.1:n.186+16G>T
NM_000064.3:c.682+16G>T NP_000055.2:n.682+16G>T
NM_000064.4:c.682+16G>T MANE Select NP_000055.2:n.682+16G>T