Canonical Allele Identifier: CA403643292
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs1186512519
gnomAD v3: 19-6714250-T-A
gnomAD v4: 19-6714250-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6714250T>A , CM000681.2:g.6714250T>A GRCh38
NC_000019.9:g.6714261T>A , CM000681.1:g.6714261T>A GRCh37
NC_000019.8:g.6665261T>A NCBI36
NG_009557.1:g.11402A>T , LRG_27:g.11402A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.477-2A>T ENSP00000512083.1:n.477-2A>T
ENST00000245907.11:c.600-2A>T MANE Select ENSP00000245907.4:n.600-2A>T
ENST00000245907.10:c.600-2A>T ENSP00000245907.4:n.600-2A>T
ENST00000595577.1:n.102A>T
NM_000064.3:c.600-2A>T NP_000055.2:n.600-2A>T
NM_000064.4:c.600-2A>T MANE Select NP_000055.2:n.600-2A>T