Canonical Allele Identifier: CA9129741
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs367806364
ExAC: 19:6714225 T / A
gnomAD v2: 19-6714225-T-A
gnomAD v4: 19-6714214-T-A
MyVariant Identifiers: chr19:g.6714225T>A (hg19) chr19:g.6714214T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6714214T>A , CM000681.2:g.6714214T>A GRCh38
NC_000019.9:g.6714225T>A , CM000681.1:g.6714225T>A GRCh37
NC_000019.8:g.6665225T>A NCBI36
NG_009557.1:g.11438A>T , LRG_27:g.11438A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.511A>T ENSP00000512083.1:p.Asn171Tyr
ENST00000245907.11:c.634A>T MANE Select ENSP00000245907.4:p.Asn212Tyr
ENST00000245907.10:c.634A>T ENSP00000245907.4:p.Asn212Tyr
ENST00000595577.1:n.138A>T
NM_000064.3:c.634A>T NP_000055.2:p.Asn212Tyr
NM_000064.4:c.634A>T MANE Select NP_000055.2:p.Asn212Tyr
Search 100 bp 5'
Search 100 bp 3'