Canonical Allele Identifier: CA403642375
Gene: C3 HGNC NCBI

Linked Data

gnomAD v4: 19-6713313-A-C
MyVariant Identifiers: chr19:g.6713324A>C (hg19) chr19:g.6713313A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6713313A>C , CM000681.2:g.6713313A>C GRCh38
NC_000019.9:g.6713324A>C , CM000681.1:g.6713324A>C GRCh37
NC_000019.8:g.6664324A>C NCBI36
NG_009557.1:g.12339T>G , LRG_27:g.12339T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.756T>G ENSP00000512083.1:p.Ile252Met
ENST00000695654.1:c.3T>G ENSP00000512085.1:p.Ile1Met
ENST00000695692.1:n.203T>G
ENST00000245907.11:c.879T>G MANE Select ENSP00000245907.4:p.Ile293Met
ENST00000245907.10:c.879T>G ENSP00000245907.4:p.Ile293Met
ENST00000594270.5:n.3T>G
ENST00000595577.1:n.383T>G
ENST00000597442.5:n.129T>G
NM_000064.3:c.879T>G NP_000055.2:p.Ile293Met
NM_000064.4:c.879T>G MANE Select NP_000055.2:p.Ile293Met
Search 100 bp 5'
Search 100 bp 3'