Canonical Allele Identifier: CA403642439
Gene: C3 HGNC NCBI

Linked Data

gnomAD v4: 19-6713411-A-G
MyVariant Identifiers: chr19:g.6713422A>G (hg19) chr19:g.6713411A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6713411A>G , CM000681.2:g.6713411A>G GRCh38
NC_000019.9:g.6713422A>G , CM000681.1:g.6713422A>G GRCh37
NC_000019.8:g.6664422A>G NCBI36
NG_009557.1:g.12241T>C , LRG_27:g.12241T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.749T>C ENSP00000512083.1:p.Ile250Thr
ENST00000695692.1:n.196T>C
ENST00000245907.11:c.872T>C MANE Select ENSP00000245907.4:p.Ile291Thr
ENST00000245907.10:c.872T>C ENSP00000245907.4:p.Ile291Thr
ENST00000595577.1:n.376T>C
ENST00000597442.5:n.122T>C
NM_000064.3:c.872T>C NP_000055.2:p.Ile291Thr
NM_000064.4:c.872T>C MANE Select NP_000055.2:p.Ile291Thr
Search 100 bp 5'
Search 100 bp 3'