Canonical Allele Identifier: CA631722133

Gene: C3

Linked Data

• dbSNP Id: rs1967967006
• gnomAD v2: 19-6713640-CCCCACCTCCAGCCCCTCACCTGGCCCCACCCCCAGCCCCCCACCTTGCCCCACTCCCACCCCCCACATGGT-C
• gnomAD v3: 19-6713629-CCCCACCTCCAGCCCCTCACCTGGCCCCACCCCCAGCCCCCCACCTTGCCCCACTCCCACCCCCCACATGGT-C
• gnomAD v4: 19-6713629-CCCCACCTCCAGCCCCTCACCTGGCCCCACCCCCAGCCCCCCACCTTGCCCCACTCCCACCCCCCACATGGT-C
• MyVariant Identifiers: chr19:g.6713641_6713711del (hg19) ; chr19:g.6713630_6713700del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6713676_6713746del , CM000681.2:g.6713676_6713746del	GRCh38
NC_000019.9:g.6713687_6713757del , CM000681.1:g.6713687_6713757del	GRCh37
NC_000019.8:g.6664687_6664757del	NCBI36
NG_009557.1:g.11952_12022del , LRG_27:g.11952_12022del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.651-191_651-121del	ENSP00000512083.1:n.651-191_651-121del
ENST00000245907.11:c.774-191_774-121del MANE Select	ENSP00000245907.4:n.774-191_774-121del
ENST00000245907.10:c.774-191_774-121del	ENSP00000245907.4:n.774-191_774-121del
ENST00000595577.1:n.278-191_278-121del
ENST00000597442.5:n.23+66_24-121del
NM_000064.3:c.774-191_774-121del	NP_000055.2:n.774-191_774-121del
NM_000064.4:c.774-191_774-121del MANE Select	NP_000055.2:n.774-191_774-121del