Canonical Allele Identifier: CA795486253
Gene: COMMD8 HGNC NCBI

Linked Data

dbSNP Id: rs1248649418
gnomAD v3: 4-47460424-T-C
gnomAD v4: 4-47460424-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.47460424T>C , CM000666.2:g.47460424T>C GRCh38
NC_000004.11:g.47462441T>C , CM000666.1:g.47462441T>C GRCh37
NC_000004.10:g.47157198T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000381571.6:c.67-125A>G MANE Select ENSP00000370984.4:n.67-125A>G
ENST00000381571.5:c.67-125A>G ENSP00000370984.4:n.67-125A>G
ENST00000509220.1:n.81-125A>G
NM_017845.3:c.67-125A>G NP_060315.1:n.67-125A>G
XM_006714019.1:c.67-125A>G XP_006714082.1:n.67-125A>G
NM_001329668.1:c.67-125A>G NP_001316597.1:n.67-125A>G
NM_017845.4:c.67-125A>G NP_060315.1:n.67-125A>G
XM_017008330.1:c.67-125A>G XP_016863819.1:n.67-125A>G
NM_017845.5:c.67-125A>G MANE Select NP_060315.1:n.67-125A>G
NM_001329668.2:c.67-125A>G NP_001316597.1:n.67-125A>G