Canonical Allele Identifier: CA403614991

Gene: C3

Linked Data

• MyVariant Identifiers: chr19:g.6682029C>A (hg19) ; chr19:g.6682018C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6682018C>A , CM000681.2:g.6682018C>A	GRCh38
NC_000019.9:g.6682029C>A , CM000681.1:g.6682029C>A	GRCh37
NC_000019.8:g.6633029C>A	NCBI36
NG_009557.1:g.43634G>T , LRG_27:g.43634G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2621G>T
ENST00000695653.1:c.2182G>T	ENSP00000512084.1:p.Val728Phe
ENST00000695654.1:c.3298G>T	ENSP00000512085.1:p.Val1100Phe
ENST00000695689.1:c.244G>T	ENSP00000512101.1:n.244G>T
ENST00000695690.1:n.464G>T
ENST00000695691.1:n.464G>T
ENST00000245907.11:c.4273G>T MANE Select	ENSP00000245907.4:p.Val1425Phe
ENST00000245907.10:c.4273G>T	ENSP00000245907.4:p.Val1425Phe
ENST00000596548.1:c.394G>T	ENSP00000469744.1:p.Val132Phe
ENST00000599899.5:n.1232G>T
ENST00000601008.1:c.242-4060G>T	ENSP00000471384.1:n.242-4060G>T
NM_000064.3:c.4273G>T	NP_000055.2:p.Val1425Phe
NM_000064.4:c.4273G>T MANE Select	NP_000055.2:p.Val1425Phe