Canonical Allele Identifier: CA403632654

Gene: C3

Linked Data

• MyVariant Identifiers: chr19:g.6697390T>A (hg19) ; chr19:g.6697379T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6697379T>A , CM000681.2:g.6697379T>A	GRCh38
NC_000019.9:g.6697390T>A , CM000681.1:g.6697390T>A	GRCh37
NC_000019.8:g.6648390T>A	NCBI36
NG_009557.1:g.28273A>T , LRG_27:g.28273A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.1109A>T
ENST00000695652.1:c.2638A>T	ENSP00000512083.1:p.Ile880Phe
ENST00000695653.1:c.670A>T	ENSP00000512084.1:p.Ile224Phe
ENST00000695654.1:c.1885A>T	ENSP00000512085.1:p.Ile629Phe
ENST00000695655.1:c.1702A>T	ENSP00000512086.1:n.1702A>T
ENST00000695692.1:n.2125A>T
ENST00000245907.11:c.2761A>T MANE Select	ENSP00000245907.4:p.Ile921Phe
ENST00000245907.10:c.2761A>T	ENSP00000245907.4:p.Ile921Phe
ENST00000594005.1:n.337A>T
NM_000064.3:c.2761A>T	NP_000055.2:p.Ile921Phe
NM_000064.4:c.2761A>T MANE Select	NP_000055.2:p.Ile921Phe