Canonical Allele Identifier: CA403615357

Gene: C3

Linked Data

• gnomAD v4: 19-6682171-A-T
• MyVariant Identifiers: chr19:g.6682182A>T (hg19) ; chr19:g.6682171A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6682171A>T , CM000681.2:g.6682171A>T	GRCh38
NC_000019.9:g.6682182A>T , CM000681.1:g.6682182A>T	GRCh37
NC_000019.8:g.6633182A>T	NCBI36
NG_009557.1:g.43481T>A , LRG_27:g.43481T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2579T>A
ENST00000695653.1:c.2140T>A	ENSP00000512084.1:p.Phe714Ile
ENST00000695654.1:c.3256T>A	ENSP00000512085.1:p.Phe1086Ile
ENST00000695689.1:c.202T>A	ENSP00000512101.1:n.202T>A
ENST00000695690.1:n.422T>A
ENST00000695691.1:n.422T>A
ENST00000245907.11:c.4231T>A MANE Select	ENSP00000245907.4:p.Phe1411Ile
ENST00000245907.10:c.4231T>A	ENSP00000245907.4:p.Phe1411Ile
ENST00000596548.1:c.352T>A	ENSP00000469744.1:p.Phe118Ile
ENST00000599899.5:n.1190T>A
ENST00000601008.1:c.242-4213T>A	ENSP00000471384.1:n.242-4213T>A
NM_000064.3:c.4231T>A	NP_000055.2:p.Phe1411Ile
NM_000064.4:c.4231T>A MANE Select	NP_000055.2:p.Phe1411Ile