Canonical Allele Identifier: CA304788149

Gene: C3

Linked Data

• dbSNP Id: rs1028993127
• gnomAD v2: 19-6701486-G-A
• gnomAD v3: 19-6701475-G-A
• gnomAD v4: 19-6701475-G-A
• MyVariant Identifiers: chr19:g.6701486G>A (hg19) ; chr19:g.6701475G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6701475G>A , CM000681.2:g.6701475G>A	GRCh38
NC_000019.9:g.6701486G>A , CM000681.1:g.6701486G>A	GRCh37
NC_000019.8:g.6652486G>A	NCBI36
NG_009557.1:g.24177C>T , LRG_27:g.24177C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000695651.1:n.788+652C>T
ENST00000695652.1:c.2317+652C>T	ENSP00000512083.1:n.2317+652C>T
ENST00000695653.1:c.349+652C>T	ENSP00000512084.1:n.349+652C>T
ENST00000695654.1:c.1564+652C>T	ENSP00000512085.1:n.1564+652C>T
ENST00000695655.1:c.1381+652C>T	ENSP00000512086.1:n.1381+652C>T
ENST00000695692.1:n.1804+652C>T
ENST00000245907.11:c.2440+652C>T MANE Select	ENSP00000245907.4:n.2440+652C>T
ENST00000245907.10:c.2440+652C>T	ENSP00000245907.4:n.2440+652C>T
ENST00000602053.1:n.488+652C>T
NM_000064.3:c.2440+652C>T	NP_000055.2:n.2440+652C>T
NM_000064.4:c.2440+652C>T MANE Select	NP_000055.2:n.2440+652C>T