Canonical Allele Identifier: CA403633965

Gene: C3

Linked Data

• MyVariant Identifiers: chr19:g.6697728C>A (hg19) ; chr19:g.6697717C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6697717C>A , CM000681.2:g.6697717C>A	GRCh38
NC_000019.9:g.6697728C>A , CM000681.1:g.6697728C>A	GRCh37
NC_000019.8:g.6648728C>A	NCBI36
NG_009557.1:g.27935G>T , LRG_27:g.27935G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.866G>T
ENST00000695652.1:c.2395G>T	ENSP00000512083.1:p.Val799Phe
ENST00000695653.1:c.427G>T	ENSP00000512084.1:p.Val143Phe
ENST00000695654.1:c.1642G>T	ENSP00000512085.1:p.Val548Phe
ENST00000695655.1:c.1459G>T	ENSP00000512086.1:n.1459G>T
ENST00000695692.1:n.1882G>T
ENST00000245907.11:c.2518G>T MANE Select	ENSP00000245907.4:p.Val840Phe
ENST00000245907.10:c.2518G>T	ENSP00000245907.4:p.Val840Phe
ENST00000602053.1:n.566G>T
NM_000064.3:c.2518G>T	NP_000055.2:p.Val840Phe
NM_000064.4:c.2518G>T MANE Select	NP_000055.2:p.Val840Phe