Canonical Allele Identifier: CA505124823

Gene: C3

Linked Data

• dbSNP Id: rs1425510144
• gnomAD v2: 19-6709827-T-C
• gnomAD v4: 19-6709816-T-C
• MyVariant Identifiers: chr19:g.6709827T>C (hg19) ; chr19:g.6709816T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6709816T>C , CM000681.2:g.6709816T>C	GRCh38
NC_000019.9:g.6709827T>C , CM000681.1:g.6709827T>C	GRCh37
NC_000019.8:g.6660827T>C	NCBI36
NG_009557.1:g.15836A>G , LRG_27:g.15836A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.1590A>G	ENSP00000512083.1:p.Glu530=
ENST00000695654.1:c.837A>G	ENSP00000512085.1:p.Glu279=
ENST00000695655.1:c.654A>G	ENSP00000512086.1:n.654A>G
ENST00000695692.1:n.1077A>G
ENST00000245907.11:c.1713A>G MANE Select	ENSP00000245907.4:p.Glu571=
ENST00000245907.10:c.1713A>G	ENSP00000245907.4:p.Glu571=
ENST00000600763.1:n.346A>G
NM_000064.3:c.1713A>G	NP_000055.2:p.Glu571=
NM_000064.4:c.1713A>G MANE Select	NP_000055.2:p.Glu571=