Canonical Allele Identifier: CA9129782
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs146130553
ExAC: 19:6714439 C / A
gnomAD v2: 19-6714439-C-A
gnomAD v3: 19-6714428-C-A
gnomAD v4: 19-6714428-C-A
MyVariant Identifiers: chr19:g.6714439C>A (hg19) chr19:g.6714428C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6714428C>A , CM000681.2:g.6714428C>A GRCh38
NC_000019.9:g.6714439C>A , CM000681.1:g.6714439C>A GRCh37
NC_000019.8:g.6665439C>A NCBI36
NG_009557.1:g.11224G>T , LRG_27:g.11224G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.400G>T ENSP00000512083.1:p.Val134Phe
ENST00000245907.11:c.523G>T MANE Select ENSP00000245907.4:p.Val175Phe
ENST00000245907.10:c.523G>T ENSP00000245907.4:p.Val175Phe
NM_000064.3:c.523G>T NP_000055.2:p.Val175Phe
NM_000064.4:c.523G>T MANE Select NP_000055.2:p.Val175Phe
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