Canonical Allele Identifier: CA884132756
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs1185709872
gnomAD v3: 19-6714641-C-A
gnomAD v4: 19-6714641-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6714641C>A , CM000681.2:g.6714641C>A GRCh38
NC_000019.9:g.6714652C>A , CM000681.1:g.6714652C>A GRCh37
NC_000019.8:g.6665652C>A NCBI36
NG_009557.1:g.11011G>T , LRG_27:g.11011G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.382-195G>T ENSP00000512083.1:n.382-195G>T
ENST00000245907.11:c.505-195G>T MANE Select ENSP00000245907.4:n.505-195G>T
ENST00000245907.10:c.505-195G>T ENSP00000245907.4:n.505-195G>T
NM_000064.3:c.505-195G>T NP_000055.2:n.505-195G>T
NM_000064.4:c.505-195G>T MANE Select NP_000055.2:n.505-195G>T