Canonical Allele Identifier: CA403642061
Gene: C3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.6713208A>C (hg19) chr19:g.6713197A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6713197A>C , CM000681.2:g.6713197A>C GRCh38
NC_000019.9:g.6713208A>C , CM000681.1:g.6713208A>C GRCh37
NC_000019.8:g.6664208A>C NCBI36
NG_009557.1:g.12455T>G , LRG_27:g.12455T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.872T>G ENSP00000512083.1:p.Leu291Trp
ENST00000695654.1:c.119T>G ENSP00000512085.1:p.Leu40Trp
ENST00000695692.1:n.319T>G
ENST00000245907.11:c.995T>G MANE Select ENSP00000245907.4:p.Leu332Trp
ENST00000245907.10:c.995T>G ENSP00000245907.4:p.Leu332Trp
ENST00000594270.5:n.119T>G
ENST00000595577.1:n.499T>G
ENST00000597442.5:n.245T>G
NM_000064.3:c.995T>G NP_000055.2:p.Leu332Trp
NM_000064.4:c.995T>G MANE Select NP_000055.2:p.Leu332Trp
Search 100 bp 5'
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