Canonical Allele Identifier: CA403632606

Gene: C3

Linked Data

• MyVariant Identifiers: chr19:g.6697381C>A (hg19) ; chr19:g.6697370C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6697370C>A , CM000681.2:g.6697370C>A	GRCh38
NC_000019.9:g.6697381C>A , CM000681.1:g.6697381C>A	GRCh37
NC_000019.8:g.6648381C>A	NCBI36
NG_009557.1:g.28282G>T , LRG_27:g.28282G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.1118G>T
ENST00000695652.1:c.2647G>T	ENSP00000512083.1:p.Gly883Cys
ENST00000695653.1:c.679G>T	ENSP00000512084.1:p.Gly227Cys
ENST00000695654.1:c.1894G>T	ENSP00000512085.1:p.Gly632Cys
ENST00000695655.1:c.1711G>T	ENSP00000512086.1:n.1711G>T
ENST00000695692.1:n.2134G>T
ENST00000245907.11:c.2770G>T MANE Select	ENSP00000245907.4:p.Gly924Cys
ENST00000245907.10:c.2770G>T	ENSP00000245907.4:p.Gly924Cys
ENST00000594005.1:n.346G>T
NM_000064.3:c.2770G>T	NP_000055.2:p.Gly924Cys
NM_000064.4:c.2770G>T MANE Select	NP_000055.2:p.Gly924Cys