Canonical Allele Identifier: CA403643041
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs1348088667
gnomAD v2: 19-6714076-C-G
gnomAD v4: 19-6714065-C-G
MyVariant Identifiers: chr19:g.6714076C>G (hg19) chr19:g.6714065C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6714065C>G , CM000681.2:g.6714065C>G GRCh38
NC_000019.9:g.6714076C>G , CM000681.1:g.6714076C>G GRCh37
NC_000019.8:g.6665076C>G NCBI36
NG_009557.1:g.11587G>C , LRG_27:g.11587G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.577G>C ENSP00000512083.1:p.Val193Leu
ENST00000245907.11:c.700G>C MANE Select ENSP00000245907.4:p.Val234Leu
ENST00000245907.10:c.700G>C ENSP00000245907.4:p.Val234Leu
ENST00000595577.1:n.204G>C
NM_000064.3:c.700G>C NP_000055.2:p.Val234Leu
NM_000064.4:c.700G>C MANE Select NP_000055.2:p.Val234Leu
Search 100 bp 5'
Search 100 bp 3'