Canonical Allele Identifier: CA631650400

Gene: C3

Linked Data

• dbSNP Id: rs1917792252
• gnomAD v2: 19-6679117-C-CCACCCAT
• gnomAD v4: 19-6679106-C-CCACCCAT
• MyVariant Identifiers: chr19:g.6679117_6679118insCACCCAT (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6679113_6679119dup , CM000681.2:g.6679113_6679119dup	GRCh38
NC_000019.9:g.6679124_6679130dup , CM000681.1:g.6679124_6679130dup	GRCh37
NC_000019.8:g.6630124_6630130dup	NCBI36
NG_009557.1:g.46539_46545dup , LRG_27:g.46539_46545dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2978+12_2978+18dup
ENST00000695653.1:c.2539+12_2539+18dup	ENSP00000512084.1:n.2539+12_2539+18dup
ENST00000695654.1:c.3655+12_3655+18dup	ENSP00000512085.1:n.3655+12_3655+18dup
ENST00000695689.1:c.601+12_601+18dup	ENSP00000512101.1:n.601+12_601+18dup
ENST00000695690.1:n.1695+12_1695+18dup
ENST00000695691.1:n.1491+12_1491+18dup
ENST00000245907.11:c.4630+12_4630+18dup MANE Select	ENSP00000245907.4:n.4630+12_4630+18dup
ENST00000245907.10:c.4630+12_4630+18dup	ENSP00000245907.4:n.4630+12_4630+18dup
ENST00000599668.1:n.250+12_250+18dup
ENST00000599899.5:n.1589+12_1589+18dup
ENST00000601008.1:c.242-1155_242-1149dup	ENSP00000471384.1:n.242-1155_242-1149dup
ENST00000602229.1:c.77+12_77+18dup
NM_000064.3:c.4630+12_4630+18dup	NP_000055.2:n.4630+12_4630+18dup
NM_000064.4:c.4630+12_4630+18dup MANE Select	NP_000055.2:n.4630+12_4630+18dup