Canonical Allele Identifier: CA403642136

Gene: C3

Linked Data

• dbSNP Id: rs1467955813
• gnomAD v2: 19-6713245-C-T
• gnomAD v4: 19-6713234-C-T
• MyVariant Identifiers: chr19:g.6713245C>T (hg19) ; chr19:g.6713234C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6713234C>T , CM000681.2:g.6713234C>T	GRCh38
NC_000019.9:g.6713245C>T , CM000681.1:g.6713245C>T	GRCh37
NC_000019.8:g.6664245C>T	NCBI36
NG_009557.1:g.12418G>A , LRG_27:g.12418G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.835G>A	ENSP00000512083.1:p.Val279Met
ENST00000695654.1:c.82G>A	ENSP00000512085.1:p.Val28Met
ENST00000695692.1:n.282G>A
ENST00000245907.11:c.958G>A MANE Select	ENSP00000245907.4:p.Val320Met
ENST00000245907.10:c.958G>A	ENSP00000245907.4:p.Val320Met
ENST00000594270.5:n.82G>A
ENST00000595577.1:n.462G>A
ENST00000597442.5:n.208G>A
NM_000064.3:c.958G>A	NP_000055.2:p.Val320Met
NM_000064.4:c.958G>A MANE Select	NP_000055.2:p.Val320Met