Canonical Allele Identifier: CA9129765
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs376074369
gnomAD v2: 19-6714321-G-T
gnomAD v3: 19-6714310-G-T
gnomAD v4: 19-6714310-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6714310G>T , CM000681.2:g.6714310G>T GRCh38
NC_000019.9:g.6714321G>T , CM000681.1:g.6714321G>T GRCh37
NC_000019.8:g.6665321G>T NCBI36
NG_009557.1:g.11342C>A , LRG_27:g.11342C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.476+42C>A ENSP00000512083.1:n.476+42C>A
ENST00000245907.11:c.599+42C>A MANE Select ENSP00000245907.4:n.599+42C>A
ENST00000245907.10:c.599+42C>A ENSP00000245907.4:n.599+42C>A
ENST00000595577.1:n.42C>A
NM_000064.3:c.599+42C>A NP_000055.2:n.599+42C>A
NM_000064.4:c.599+42C>A MANE Select NP_000055.2:n.599+42C>A