Canonical Allele Identifier: CA403618320

Gene: C3

Linked Data

• gnomAD v4: 19-6685017-C-T
• MyVariant Identifiers: chr19:g.6685028C>T (hg19) ; chr19:g.6685017C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6685017C>T , CM000681.2:g.6685017C>T	GRCh38
NC_000019.9:g.6685028C>T , CM000681.1:g.6685028C>T	GRCh37
NC_000019.8:g.6636028C>T	NCBI36
NG_009557.1:g.40635G>A , LRG_27:g.40635G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2288G>A
ENST00000695653.1:c.1849G>A	ENSP00000512084.1:p.Glu617Lys
ENST00000695654.1:c.2965G>A	ENSP00000512085.1:p.Glu989Lys
ENST00000695690.1:n.131G>A
ENST00000695691.1:n.131G>A
ENST00000245907.11:c.3940G>A MANE Select	ENSP00000245907.4:p.Glu1314Lys
ENST00000245907.10:c.3940G>A	ENSP00000245907.4:p.Glu1314Lys
ENST00000596238.1:n.383G>A
ENST00000596548.1:c.22G>A	ENSP00000469744.1:p.Glu8Lys
ENST00000601008.1:c.241+1729G>A	ENSP00000471384.1:n.241+1729G>A
NM_000064.3:c.3940G>A	NP_000055.2:p.Glu1314Lys
NM_000064.4:c.3940G>A MANE Select	NP_000055.2:p.Glu1314Lys