Canonical Allele Identifier: CA1061950521
Gene: COMMD8 HGNC NCBI

Linked Data

dbSNP Id: rs1729996150
gnomAD v3: 4-47460449-A-G
gnomAD v4: 4-47460449-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.47460449A>G , CM000666.2:g.47460449A>G GRCh38
NC_000004.11:g.47462466A>G , CM000666.1:g.47462466A>G GRCh37
NC_000004.10:g.47157223A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000381571.6:c.67-150T>C MANE Select ENSP00000370984.4:n.67-150T>C
ENST00000381571.5:c.67-150T>C ENSP00000370984.4:n.67-150T>C
ENST00000509220.1:n.81-150T>C
NM_017845.3:c.67-150T>C NP_060315.1:n.67-150T>C
XM_006714019.1:c.67-150T>C XP_006714082.1:n.67-150T>C
NM_001329668.1:c.67-150T>C NP_001316597.1:n.67-150T>C
NM_017845.4:c.67-150T>C NP_060315.1:n.67-150T>C
XM_017008330.1:c.67-150T>C XP_016863819.1:n.67-150T>C
NM_017845.5:c.67-150T>C MANE Select NP_060315.1:n.67-150T>C
NM_001329668.2:c.67-150T>C NP_001316597.1:n.67-150T>C