Canonical Allele Identifier: CA993077956

Gene: C3

Linked Data

• dbSNP Id: rs1967971660
• gnomAD v3: 19-6713758-GCCCCCACCTGACTCCACCCCCCAGCCCCCCACCTGGTCCCACCCCCAGCCCCTCACCTTGCCCCACCCCCAGCCCCCCACCTTCCCCACCCCCAGCCCCCCACCTGACTCCACCCCCAGCCCCCCACCTGGTCCCATCTCCAGC-G
• gnomAD v4: 19-6713758-GCCCCCACCTGACTCCACCCCCCAGCCCCCCACCTGGTCCCACCCCCAGCCCCTCACCTTGCCCCACCCCCAGCCCCCCACCTTCCCCACCCCCAGCCCCCCACCTGACTCCACCCCCAGCCCCCCACCTGGTCCCATCTCCAGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6713780_6713923del , CM000681.2:g.6713780_6713923del	GRCh38
NC_000019.9:g.6713791_6713934del , CM000681.1:g.6713791_6713934del	GRCh37
NC_000019.8:g.6664791_6664934del	NCBI36
NG_009557.1:g.11750_11893del , LRG_27:g.11750_11893del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.650+90_650+233del	ENSP00000512083.1:n.650+90_650+233del
ENST00000245907.11:c.773+90_773+233del MANE Select	ENSP00000245907.4:n.773+90_773+233del
ENST00000245907.10:c.773+90_773+233del	ENSP00000245907.4:n.773+90_773+233del
ENST00000595577.1:n.277+90_277+233del
NM_000064.3:c.773+90_773+233del	NP_000055.2:n.773+90_773+233del
NM_000064.4:c.773+90_773+233del MANE Select	NP_000055.2:n.773+90_773+233del