Canonical Allele Identifier: CA631722088

Gene: C3

Linked Data

• dbSNP Id: rs1198331117
• gnomAD v2: 19-6697347-G-A
• gnomAD v4: 19-6697336-G-A
• MyVariant Identifiers: chr19:g.6697347G>A (hg19) ; chr19:g.6697336G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6697336G>A , CM000681.2:g.6697336G>A	GRCh38
NC_000019.9:g.6697347G>A , CM000681.1:g.6697347G>A	GRCh37
NC_000019.8:g.6648347G>A	NCBI36
NG_009557.1:g.28316C>T , LRG_27:g.28316C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.1144+8C>T
ENST00000695652.1:c.2673+8C>T	ENSP00000512083.1:n.2673+8C>T
ENST00000695653.1:c.705+8C>T	ENSP00000512084.1:n.705+8C>T
ENST00000695654.1:c.1920+8C>T	ENSP00000512085.1:n.1920+8C>T
ENST00000695655.1:c.1737+8C>T	ENSP00000512086.1:n.1737+8C>T
ENST00000695692.1:n.2160+8C>T
ENST00000245907.11:c.2796+8C>T MANE Select	ENSP00000245907.4:n.2796+8C>T
ENST00000245907.10:c.2796+8C>T	ENSP00000245907.4:n.2796+8C>T
ENST00000594005.1:n.372+8C>T
NM_000064.3:c.2796+8C>T	NP_000055.2:n.2796+8C>T
NM_000064.4:c.2796+8C>T MANE Select	NP_000055.2:n.2796+8C>T