Canonical Allele Identifier: CA304773131

Gene: C3

Linked Data

• dbSNP Id: rs904617601
• gnomAD v2: 19-6682310-A-T
• gnomAD v3: 19-6682299-A-T
• gnomAD v4: 19-6682299-A-T
• MyVariant Identifiers: chr19:g.6682310A>T (hg19) ; chr19:g.6682299A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6682299A>T , CM000681.2:g.6682299A>T	GRCh38
NC_000019.9:g.6682310A>T , CM000681.1:g.6682310A>T	GRCh37
NC_000019.8:g.6633310A>T	NCBI36
NG_009557.1:g.43353T>A , LRG_27:g.43353T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2521-70T>A
ENST00000695653.1:c.2082-70T>A	ENSP00000512084.1:n.2082-70T>A
ENST00000695654.1:c.3198-70T>A	ENSP00000512085.1:n.3198-70T>A
ENST00000695689.1:c.144-70T>A	ENSP00000512101.1:n.144-70T>A
ENST00000695690.1:n.364-70T>A
ENST00000695691.1:n.364-70T>A
ENST00000245907.11:c.4173-70T>A MANE Select	ENSP00000245907.4:n.4173-70T>A
ENST00000245907.10:c.4173-70T>A	ENSP00000245907.4:n.4173-70T>A
ENST00000596548.1:c.294-70T>A	ENSP00000469744.1:n.294-70T>A
ENST00000599899.5:n.1062T>A
ENST00000601008.1:c.242-4341T>A	ENSP00000471384.1:n.242-4341T>A
NM_000064.3:c.4173-70T>A	NP_000055.2:n.4173-70T>A
NM_000064.4:c.4173-70T>A MANE Select	NP_000055.2:n.4173-70T>A