Canonical Allele Identifier: CA403643062
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs1397744538
gnomAD v2: 19-6714084-C-T
gnomAD v4: 19-6714073-C-T
COSMIC: COSM2727962
MyVariant Identifiers: chr19:g.6714084C>T (hg19) chr19:g.6714073C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6714073C>T , CM000681.2:g.6714073C>T GRCh38
NC_000019.9:g.6714084C>T , CM000681.1:g.6714084C>T GRCh37
NC_000019.8:g.6665084C>T NCBI36
NG_009557.1:g.11579G>A , LRG_27:g.11579G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.569G>A ENSP00000512083.1:p.Ser190Asn
ENST00000245907.11:c.692G>A MANE Select ENSP00000245907.4:p.Ser231Asn
ENST00000245907.10:c.692G>A ENSP00000245907.4:p.Ser231Asn
ENST00000595577.1:n.196G>A
NM_000064.3:c.692G>A NP_000055.2:p.Ser231Asn
NM_000064.4:c.692G>A MANE Select NP_000055.2:p.Ser231Asn
Search 100 bp 5'
Search 100 bp 3'