Canonical Allele Identifier: CA9129844
Gene: C3 HGNC NCBI

Linked Data

ClinVar Variation Id: 830023
ClinVar RCV Id: RCV001029992
dbSNP Id: rs747923416
ExAC: 19:6718369 C / T
gnomAD v2: 19-6718369-C-T
gnomAD v3: 19-6718358-C-T
gnomAD v4: 19-6718358-C-T
MyVariant Identifiers: chr19:g.6718369C>T (hg19) chr19:g.6718358C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6718358C>T , CM000681.2:g.6718358C>T GRCh38
NC_000019.9:g.6718369C>T , CM000681.1:g.6718369C>T GRCh37
NC_000019.8:g.6669369C>T NCBI36
NG_009557.1:g.7294G>A , LRG_27:g.7294G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000594936.2:n.383G>A
ENST00000695652.1:c.199G>A ENSP00000512083.1:p.Val67Met
ENST00000695693.1:c.322G>A ENSP00000512104.1:p.Val108Met
ENST00000245907.11:c.322G>A MANE Select ENSP00000245907.4:p.Val108Met
ENST00000245907.10:c.322G>A ENSP00000245907.4:p.Val108Met
ENST00000594936.1:n.383G>A
ENST00000600744.1:c.199G>A ENSP00000472044.1:p.Val67Met
NM_000064.3:c.322G>A NP_000055.2:p.Val108Met
NM_000064.4:c.322G>A MANE Select NP_000055.2:p.Val108Met
Search 100 bp 5'
Search 100 bp 3'