Canonical Allele Identifier: CA403615041

Gene: C3

Linked Data

• MyVariant Identifiers: chr19:g.6682040A>T (hg19) ; chr19:g.6682029A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6682029A>T , CM000681.2:g.6682029A>T	GRCh38
NC_000019.9:g.6682040A>T , CM000681.1:g.6682040A>T	GRCh37
NC_000019.8:g.6633040A>T	NCBI36
NG_009557.1:g.43623T>A , LRG_27:g.43623T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2610T>A
ENST00000695653.1:c.2171T>A	ENSP00000512084.1:p.Leu724Gln
ENST00000695654.1:c.3287T>A	ENSP00000512085.1:p.Leu1096Gln
ENST00000695689.1:c.233T>A	ENSP00000512101.1:n.233T>A
ENST00000695690.1:n.453T>A
ENST00000695691.1:n.453T>A
ENST00000245907.11:c.4262T>A MANE Select	ENSP00000245907.4:p.Leu1421Gln
ENST00000245907.10:c.4262T>A	ENSP00000245907.4:p.Leu1421Gln
ENST00000596548.1:c.383T>A	ENSP00000469744.1:p.Leu128Gln
ENST00000599899.5:n.1221T>A
ENST00000601008.1:c.242-4071T>A	ENSP00000471384.1:n.242-4071T>A
NM_000064.3:c.4262T>A	NP_000055.2:p.Leu1421Gln
NM_000064.4:c.4262T>A MANE Select	NP_000055.2:p.Leu1421Gln