Canonical Allele Identifier: CA631650355

Gene: C3

Linked Data

• dbSNP Id: rs1167103723
• gnomAD v2: 19-6678968-C-T
• gnomAD v3: 19-6678957-C-T
• gnomAD v4: 19-6678957-C-T
• MyVariant Identifiers: chr19:g.6678968C>T (hg19) ; chr19:g.6678957C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6678957C>T , CM000681.2:g.6678957C>T	GRCh38
NC_000019.9:g.6678968C>T , CM000681.1:g.6678968C>T	GRCh37
NC_000019.8:g.6629968C>T	NCBI36
NG_009557.1:g.46695G>A , LRG_27:g.46695G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2978+168G>A
ENST00000695653.1:c.2539+168G>A	ENSP00000512084.1:n.2539+168G>A
ENST00000695654.1:c.3655+168G>A	ENSP00000512085.1:n.3655+168G>A
ENST00000695689.1:c.601+168G>A	ENSP00000512101.1:n.601+168G>A
ENST00000695690.1:n.1695+168G>A
ENST00000695691.1:n.1491+168G>A
ENST00000245907.11:c.4630+168G>A MANE Select	ENSP00000245907.4:n.4630+168G>A
ENST00000245907.10:c.4630+168G>A	ENSP00000245907.4:n.4630+168G>A
ENST00000599668.1:n.250+168G>A
ENST00000599899.5:n.1589+168G>A
ENST00000601008.1:c.242-999G>A	ENSP00000471384.1:n.242-999G>A
ENST00000602229.1:c.77+168G>A
NM_000064.3:c.4630+168G>A	NP_000055.2:n.4630+168G>A
NM_000064.4:c.4630+168G>A MANE Select	NP_000055.2:n.4630+168G>A