Canonical Allele Identifier: CA631662293

Gene: C3

Linked Data

• dbSNP Id: rs1489763943
• gnomAD v2: 19-6713806-T-C
• gnomAD v3: 19-6713795-T-C
• gnomAD v4: 19-6713795-T-C
• MyVariant Identifiers: chr19:g.6713806T>C (hg19) ; chr19:g.6713795T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6713795T>C , CM000681.2:g.6713795T>C	GRCh38
NC_000019.9:g.6713806T>C , CM000681.1:g.6713806T>C	GRCh37
NC_000019.8:g.6664806T>C	NCBI36
NG_009557.1:g.11857A>G , LRG_27:g.11857A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.650+197A>G	ENSP00000512083.1:n.650+197A>G
ENST00000245907.11:c.773+197A>G MANE Select	ENSP00000245907.4:n.773+197A>G
ENST00000245907.10:c.773+197A>G	ENSP00000245907.4:n.773+197A>G
ENST00000595577.1:n.277+197A>G
NM_000064.3:c.773+197A>G	NP_000055.2:n.773+197A>G
NM_000064.4:c.773+197A>G MANE Select	NP_000055.2:n.773+197A>G