Canonical Allele Identifier: CA403645112

Gene: C3

Linked Data

• MyVariant Identifiers: chr19:g.6718300A>G (hg19) ; chr19:g.6718289A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6718289A>G , CM000681.2:g.6718289A>G	GRCh38
NC_000019.9:g.6718300A>G , CM000681.1:g.6718300A>G	GRCh37
NC_000019.8:g.6669300A>G	NCBI36
NG_009557.1:g.7363T>C , LRG_27:g.7363T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000594936.2:n.452T>C
ENST00000695652.1:c.268T>C	ENSP00000512083.1:p.Phe90Leu
ENST00000695693.1:c.391T>C	ENSP00000512104.1:p.Phe131Leu
ENST00000245907.11:c.391T>C MANE Select	ENSP00000245907.4:p.Phe131Leu
ENST00000245907.10:c.391T>C	ENSP00000245907.4:p.Phe131Leu
ENST00000594936.1:n.452T>C
ENST00000600744.1:c.268T>C	ENSP00000472044.1:p.Phe90Leu
NM_000064.3:c.391T>C	NP_000055.2:p.Phe131Leu
NM_000064.4:c.391T>C MANE Select	NP_000055.2:p.Phe131Leu