Canonical Allele Identifier: CA403643486

Gene: C3

Linked Data

• MyVariant Identifiers: chr19:g.6714412T>G (hg19) ; chr19:g.6714401T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6714401T>G , CM000681.2:g.6714401T>G	GRCh38
NC_000019.9:g.6714412T>G , CM000681.1:g.6714412T>G	GRCh37
NC_000019.8:g.6665412T>G	NCBI36
NG_009557.1:g.11251A>C , LRG_27:g.11251A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.427A>C	ENSP00000512083.1:p.Asn143His
ENST00000245907.11:c.550A>C MANE Select	ENSP00000245907.4:p.Asn184His
ENST00000245907.10:c.550A>C	ENSP00000245907.4:p.Asn184His
NM_000064.3:c.550A>C	NP_000055.2:p.Asn184His
NM_000064.4:c.550A>C MANE Select	NP_000055.2:p.Asn184His