Canonical Allele Identifier: CA403642197

Gene: C3

Linked Data

• dbSNP Id: rs1393149356
• gnomAD v2: 19-6713272-C-T
• gnomAD v4: 19-6713261-C-T
• MyVariant Identifiers: chr19:g.6713272C>T (hg19) ; chr19:g.6713261C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6713261C>T , CM000681.2:g.6713261C>T	GRCh38
NC_000019.9:g.6713272C>T , CM000681.1:g.6713272C>T	GRCh37
NC_000019.8:g.6664272C>T	NCBI36
NG_009557.1:g.12391G>A , LRG_27:g.12391G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.808G>A	ENSP00000512083.1:p.Val270Met
ENST00000695654.1:c.55G>A	ENSP00000512085.1:p.Val19Met
ENST00000695692.1:n.255G>A
ENST00000245907.11:c.931G>A MANE Select	ENSP00000245907.4:p.Val311Met
ENST00000245907.10:c.931G>A	ENSP00000245907.4:p.Val311Met
ENST00000594270.5:n.55G>A
ENST00000595577.1:n.435G>A
ENST00000597442.5:n.181G>A
NM_000064.3:c.931G>A	NP_000055.2:p.Val311Met
NM_000064.4:c.931G>A MANE Select	NP_000055.2:p.Val311Met