Canonical Allele Identifier: CA403620283

Gene: C3

Linked Data

• MyVariant Identifiers: chr19:g.6686293T>G (hg19) ; chr19:g.6686282T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6686282T>G , CM000681.2:g.6686282T>G	GRCh38
NC_000019.9:g.6686293T>G , CM000681.1:g.6686293T>G	GRCh37
NC_000019.8:g.6637293T>G	NCBI36
NG_009557.1:g.39370A>C , LRG_27:g.39370A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2000A>C
ENST00000695652.1:c.3529A>C	ENSP00000512083.1:p.Asn1177His
ENST00000695653.1:c.1561A>C	ENSP00000512084.1:p.Asn521His
ENST00000695654.1:c.2677A>C	ENSP00000512085.1:p.Asn893His
ENST00000695655.1:c.2593A>C	ENSP00000512086.1:n.2593A>C
ENST00000695692.1:n.3016A>C
ENST00000245907.11:c.3652A>C MANE Select	ENSP00000245907.4:p.Asn1218His
ENST00000245907.10:c.3652A>C	ENSP00000245907.4:p.Asn1218His
ENST00000596238.1:n.95A>C
ENST00000601008.1:c.241+464A>C	ENSP00000471384.1:n.241+464A>C
NM_000064.3:c.3652A>C	NP_000055.2:p.Asn1218His
NM_000064.4:c.3652A>C MANE Select	NP_000055.2:p.Asn1218His