Canonical Allele Identifier: CA9128622

Gene: C3

Linked Data

• dbSNP Id: rs772674526
• ExAC: 19:6685200 G / GA
• gnomAD v2: 19-6685200-G-GA
• gnomAD v4: 19-6685189-G-GA
• MyVariant Identifiers: chr19:g.6685200_6685201insA (hg19) ; chr19:g.6685189_6685190insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6685192dup , CM000681.2:g.6685192dup	GRCh38
NC_000019.9:g.6685203dup , CM000681.1:g.6685203dup	GRCh37
NC_000019.8:g.6636203dup	NCBI36
NG_009557.1:g.40462dup , LRG_27:g.40462dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2159-44dup
ENST00000695653.1:c.1720-44dup	ENSP00000512084.1:n.1720-44dup
ENST00000695654.1:c.2836-44dup	ENSP00000512085.1:n.2836-44dup
ENST00000245907.11:c.3811-44dup MANE Select	ENSP00000245907.4:n.3811-44dup
ENST00000245907.10:c.3811-44dup	ENSP00000245907.4:n.3811-44dup
ENST00000596238.1:n.254-44dup
ENST00000601008.1:c.241+1556dup	ENSP00000471384.1:n.241+1556dup
NM_000064.3:c.3811-44dup	NP_000055.2:n.3811-44dup
NM_000064.4:c.3811-44dup MANE Select	NP_000055.2:n.3811-44dup