Canonical Allele Identifier: CA631651052

Gene: C3

Linked Data

• dbSNP Id: rs1392286995
• gnomAD v2: 19-6679513-G-C
• gnomAD v4: 19-6679502-G-C
• MyVariant Identifiers: chr19:g.6679513G>C (hg19) ; chr19:g.6679502G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6679502G>C , CM000681.2:g.6679502G>C	GRCh38
NC_000019.9:g.6679513G>C , CM000681.1:g.6679513G>C	GRCh37
NC_000019.8:g.6630513G>C	NCBI36
NG_009557.1:g.46150C>G , LRG_27:g.46150C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2805-6C>G
ENST00000695653.1:c.2366-6C>G	ENSP00000512084.1:n.2366-6C>G
ENST00000695654.1:c.3482-6C>G	ENSP00000512085.1:n.3482-6C>G
ENST00000695689.1:c.428-6C>G	ENSP00000512101.1:n.428-6C>G
ENST00000695690.1:n.1522-6C>G
ENST00000695691.1:n.1318-6C>G
ENST00000245907.11:c.4457-6C>G MANE Select	ENSP00000245907.4:n.4457-6C>G
ENST00000245907.10:c.4457-6C>G	ENSP00000245907.4:n.4457-6C>G
ENST00000599668.1:n.52-6C>G
ENST00000599899.5:n.1416-6C>G
ENST00000601008.1:c.242-1544C>G	ENSP00000471384.1:n.242-1544C>G
NM_000064.3:c.4457-6C>G	NP_000055.2:n.4457-6C>G
NM_000064.4:c.4457-6C>G MANE Select	NP_000055.2:n.4457-6C>G