Canonical Allele Identifier: CA403633028

Gene: C3

Linked Data

• MyVariant Identifiers: chr19:g.6697478C>A (hg19) ; chr19:g.6697467C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6697467C>A , CM000681.2:g.6697467C>A	GRCh38
NC_000019.9:g.6697478C>A , CM000681.1:g.6697478C>A	GRCh37
NC_000019.8:g.6648478C>A	NCBI36
NG_009557.1:g.28185G>T , LRG_27:g.28185G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.1021G>T
ENST00000695652.1:c.2550G>T	ENSP00000512083.1:p.Lys850Asn
ENST00000695653.1:c.582G>T	ENSP00000512084.1:p.Lys194Asn
ENST00000695654.1:c.1797G>T	ENSP00000512085.1:p.Lys599Asn
ENST00000695655.1:c.1614G>T	ENSP00000512086.1:n.1614G>T
ENST00000695692.1:n.2037G>T
ENST00000245907.11:c.2673G>T MANE Select	ENSP00000245907.4:p.Lys891Asn
ENST00000245907.10:c.2673G>T	ENSP00000245907.4:p.Lys891Asn
ENST00000594005.1:n.249G>T
NM_000064.3:c.2673G>T	NP_000055.2:p.Lys891Asn
NM_000064.4:c.2673G>T MANE Select	NP_000055.2:p.Lys891Asn