Canonical Allele Identifier: CA9129766
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs376074369
ExAC: 19:6714321 G / A
gnomAD v2: 19-6714321-G-A
gnomAD v3: 19-6714310-G-A
gnomAD v4: 19-6714310-G-A
COSMIC: COSN24314845
MyVariant Identifiers: chr19:g.6714321G>A (hg19) chr19:g.6714310G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6714310G>A , CM000681.2:g.6714310G>A GRCh38
NC_000019.9:g.6714321G>A , CM000681.1:g.6714321G>A GRCh37
NC_000019.8:g.6665321G>A NCBI36
NG_009557.1:g.11342C>T , LRG_27:g.11342C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.476+42C>T ENSP00000512083.1:n.476+42C>T
ENST00000245907.11:c.599+42C>T MANE Select ENSP00000245907.4:n.599+42C>T
ENST00000245907.10:c.599+42C>T ENSP00000245907.4:n.599+42C>T
ENST00000595577.1:n.42C>T
NM_000064.3:c.599+42C>T NP_000055.2:n.599+42C>T
NM_000064.4:c.599+42C>T MANE Select NP_000055.2:n.599+42C>T
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