Canonical Allele Identifier: CA631662383
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs750264141
gnomAD v2: 19-6714146-A-T
gnomAD v4: 19-6714135-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6714135A>T , CM000681.2:g.6714135A>T GRCh38
NC_000019.9:g.6714146A>T , CM000681.1:g.6714146A>T GRCh37
NC_000019.8:g.6665146A>T NCBI36
NG_009557.1:g.11517T>A , LRG_27:g.11517T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.559+31T>A ENSP00000512083.1:n.559+31T>A
ENST00000245907.11:c.682+31T>A MANE Select ENSP00000245907.4:n.682+31T>A
ENST00000245907.10:c.682+31T>A ENSP00000245907.4:n.682+31T>A
ENST00000595577.1:n.186+31T>A
NM_000064.3:c.682+31T>A NP_000055.2:n.682+31T>A
NM_000064.4:c.682+31T>A MANE Select NP_000055.2:n.682+31T>A