Canonical Allele Identifier: CA403615379

Gene: C3

Linked Data

• MyVariant Identifiers: chr19:g.6682187G>A (hg19) ; chr19:g.6682176G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6682176G>A , CM000681.2:g.6682176G>A	GRCh38
NC_000019.9:g.6682187G>A , CM000681.1:g.6682187G>A	GRCh37
NC_000019.8:g.6633187G>A	NCBI36
NG_009557.1:g.43476C>T , LRG_27:g.43476C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2574C>T
ENST00000695653.1:c.2135C>T	ENSP00000512084.1:p.Thr712Ile
ENST00000695654.1:c.3251C>T	ENSP00000512085.1:p.Thr1084Ile
ENST00000695689.1:c.197C>T	ENSP00000512101.1:n.197C>T
ENST00000695690.1:n.417C>T
ENST00000695691.1:n.417C>T
ENST00000245907.11:c.4226C>T MANE Select	ENSP00000245907.4:p.Thr1409Ile
ENST00000245907.10:c.4226C>T	ENSP00000245907.4:p.Thr1409Ile
ENST00000596548.1:c.347C>T	ENSP00000469744.1:p.Thr116Ile
ENST00000599899.5:n.1185C>T
ENST00000601008.1:c.242-4218C>T	ENSP00000471384.1:n.242-4218C>T
NM_000064.3:c.4226C>T	NP_000055.2:p.Thr1409Ile
NM_000064.4:c.4226C>T MANE Select	NP_000055.2:p.Thr1409Ile