Canonical Allele Identifier: CA631662264

Gene: C3

Linked Data

• dbSNP Id: rs1292934804
• gnomAD v2: 19-6713704-C-G
• gnomAD v3: 19-6713693-C-G
• gnomAD v4: 19-6713693-C-G
• MyVariant Identifiers: chr19:g.6713704C>G (hg19) ; chr19:g.6713693C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6713693C>G , CM000681.2:g.6713693C>G	GRCh38
NC_000019.9:g.6713704C>G , CM000681.1:g.6713704C>G	GRCh37
NC_000019.8:g.6664704C>G	NCBI36
NG_009557.1:g.11959G>C , LRG_27:g.11959G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.651-184G>C	ENSP00000512083.1:n.651-184G>C
ENST00000245907.11:c.774-184G>C MANE Select	ENSP00000245907.4:n.774-184G>C
ENST00000245907.10:c.774-184G>C	ENSP00000245907.4:n.774-184G>C
ENST00000595577.1:n.278-184G>C
ENST00000597442.5:n.23+73G>C
NM_000064.3:c.774-184G>C	NP_000055.2:n.774-184G>C
NM_000064.4:c.774-184G>C MANE Select	NP_000055.2:n.774-184G>C