Canonical Allele Identifier: CA403615456

Gene: C3

Linked Data

• MyVariant Identifiers: chr19:g.6682211G>A (hg19) ; chr19:g.6682200G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6682200G>A , CM000681.2:g.6682200G>A	GRCh38
NC_000019.9:g.6682211G>A , CM000681.1:g.6682211G>A	GRCh37
NC_000019.8:g.6633211G>A	NCBI36
NG_009557.1:g.43452C>T , LRG_27:g.43452C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2550C>T
ENST00000695653.1:c.2111C>T	ENSP00000512084.1:p.Ser704Phe
ENST00000695654.1:c.3227C>T	ENSP00000512085.1:p.Ser1076Phe
ENST00000695689.1:c.173C>T	ENSP00000512101.1:n.173C>T
ENST00000695690.1:n.393C>T
ENST00000695691.1:n.393C>T
ENST00000245907.11:c.4202C>T MANE Select	ENSP00000245907.4:p.Ser1401Phe
ENST00000245907.10:c.4202C>T	ENSP00000245907.4:p.Ser1401Phe
ENST00000596548.1:c.323C>T	ENSP00000469744.1:p.Ser108Phe
ENST00000599899.5:n.1161C>T
ENST00000601008.1:c.242-4242C>T	ENSP00000471384.1:n.242-4242C>T
NM_000064.3:c.4202C>T	NP_000055.2:p.Ser1401Phe
NM_000064.4:c.4202C>T MANE Select	NP_000055.2:p.Ser1401Phe