Canonical Allele Identifier: CA403618434

Gene: C3

Linked Data

• gnomAD v4: 19-6685071-C-T
• MyVariant Identifiers: chr19:g.6685082C>T (hg19) ; chr19:g.6685071C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6685071C>T , CM000681.2:g.6685071C>T	GRCh38
NC_000019.9:g.6685082C>T , CM000681.1:g.6685082C>T	GRCh37
NC_000019.8:g.6636082C>T	NCBI36
NG_009557.1:g.40581G>A , LRG_27:g.40581G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2234G>A
ENST00000695653.1:c.1795G>A	ENSP00000512084.1:p.Val599Met
ENST00000695654.1:c.2911G>A	ENSP00000512085.1:p.Val971Met
ENST00000695690.1:n.77G>A
ENST00000695691.1:n.77G>A
ENST00000245907.11:c.3886G>A MANE Select	ENSP00000245907.4:p.Val1296Met
ENST00000245907.10:c.3886G>A	ENSP00000245907.4:p.Val1296Met
ENST00000596238.1:n.329G>A
ENST00000601008.1:c.241+1675G>A	ENSP00000471384.1:n.241+1675G>A
NM_000064.3:c.3886G>A	NP_000055.2:p.Val1296Met
NM_000064.4:c.3886G>A MANE Select	NP_000055.2:p.Val1296Met