Canonical Allele Identifier: CA9129686

Gene: C3

Linked Data

• dbSNP Id: rs769282947
• ExAC: 19:6713964 T / TCACCTGGCTCTTACCTGGCCCCA
• gnomAD v2: 19-6713964-T-TCACCTGGCTCTTACCTGGCCCCA
• gnomAD v4: 19-6713953-T-TCACCTGGCTCTTACCTGGCCCCA
• MyVariant Identifiers: chr19:g.6713964_6713965insCACCTGGCTCTTACCTGGCCCCA (hg19) ; chr19:g.6713953_6713954insCACCTGGCTCTTACCTGGCCCCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6713955_6713977dup , CM000681.2:g.6713955_6713977dup	GRCh38
NC_000019.9:g.6713966_6713988dup , CM000681.1:g.6713966_6713988dup	GRCh37
NC_000019.8:g.6664966_6664988dup	NCBI36
NG_009557.1:g.11676_11698dup , LRG_27:g.11676_11698dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.650+16_650+38dup	ENSP00000512083.1:n.650+16_650+38dup
ENST00000245907.11:c.773+16_773+38dup MANE Select	ENSP00000245907.4:n.773+16_773+38dup
ENST00000245907.10:c.773+16_773+38dup	ENSP00000245907.4:n.773+16_773+38dup
ENST00000595577.1:n.277+16_277+38dup
NM_000064.3:c.773+16_773+38dup	NP_000055.2:n.773+16_773+38dup
NM_000064.4:c.773+16_773+38dup MANE Select	NP_000055.2:n.773+16_773+38dup