Canonical Allele Identifier: CA304788103

Gene: C3

Linked Data

• dbSNP Id: rs187782573
• gnomAD v2: 19-6701349-C-A
• gnomAD v3: 19-6701338-C-A
• gnomAD v4: 19-6701338-C-A
• MyVariant Identifiers: chr19:g.6701349C>A (hg19) ; chr19:g.6701338C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6701338C>A , CM000681.2:g.6701338C>A	GRCh38
NC_000019.9:g.6701349C>A , CM000681.1:g.6701349C>A	GRCh37
NC_000019.8:g.6652349C>A	NCBI36
NG_009557.1:g.24314G>T , LRG_27:g.24314G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.788+789G>T
ENST00000695652.1:c.2317+789G>T	ENSP00000512083.1:n.2317+789G>T
ENST00000695653.1:c.349+789G>T	ENSP00000512084.1:n.349+789G>T
ENST00000695654.1:c.1564+789G>T	ENSP00000512085.1:n.1564+789G>T
ENST00000695655.1:c.1381+789G>T	ENSP00000512086.1:n.1381+789G>T
ENST00000695692.1:n.1804+789G>T
ENST00000245907.11:c.2440+789G>T MANE Select	ENSP00000245907.4:n.2440+789G>T
ENST00000245907.10:c.2440+789G>T	ENSP00000245907.4:n.2440+789G>T
ENST00000602053.1:n.488+789G>T
NM_000064.3:c.2440+789G>T	NP_000055.2:n.2440+789G>T
NM_000064.4:c.2440+789G>T MANE Select	NP_000055.2:n.2440+789G>T