Canonical Allele Identifier: CA403642658

Gene: C3

Linked Data

• MyVariant Identifiers: chr19:g.6713477A>G (hg19) ; chr19:g.6713466A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6713466A>G , CM000681.2:g.6713466A>G	GRCh38
NC_000019.9:g.6713477A>G , CM000681.1:g.6713477A>G	GRCh37
NC_000019.8:g.6664477A>G	NCBI36
NG_009557.1:g.12186T>C , LRG_27:g.12186T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.694T>C	ENSP00000512083.1:p.Phe232Leu
ENST00000695692.1:n.141T>C
ENST00000245907.11:c.817T>C MANE Select	ENSP00000245907.4:p.Phe273Leu
ENST00000245907.10:c.817T>C	ENSP00000245907.4:p.Phe273Leu
ENST00000595577.1:n.321T>C
ENST00000597442.5:n.67T>C
NM_000064.3:c.817T>C	NP_000055.2:p.Phe273Leu
NM_000064.4:c.817T>C MANE Select	NP_000055.2:p.Phe273Leu