Canonical Allele Identifier: CA403642647

Gene: C3

Linked Data

• MyVariant Identifiers: chr19:g.6713475G>T (hg19) ; chr19:g.6713464G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6713464G>T , CM000681.2:g.6713464G>T	GRCh38
NC_000019.9:g.6713475G>T , CM000681.1:g.6713475G>T	GRCh37
NC_000019.8:g.6664475G>T	NCBI36
NG_009557.1:g.12188C>A , LRG_27:g.12188C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.696C>A	ENSP00000512083.1:p.Phe232Leu
ENST00000695692.1:n.143C>A
ENST00000245907.11:c.819C>A MANE Select	ENSP00000245907.4:p.Phe273Leu
ENST00000245907.10:c.819C>A	ENSP00000245907.4:p.Phe273Leu
ENST00000595577.1:n.323C>A
ENST00000597442.5:n.69C>A
NM_000064.3:c.819C>A	NP_000055.2:p.Phe273Leu
NM_000064.4:c.819C>A MANE Select	NP_000055.2:p.Phe273Leu