Canonical Allele Identifier: CA2670531456
Gene: COMMD8 HGNC NCBI

Linked Data

gnomAD v4: 4-47460385-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.47460385A>G , CM000666.2:g.47460385A>G GRCh38
NC_000004.11:g.47462402A>G , CM000666.1:g.47462402A>G GRCh37
NC_000004.10:g.47157159A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000381571.6:c.67-86T>C MANE Select ENSP00000370984.4:n.67-86T>C
ENST00000381571.5:c.67-86T>C ENSP00000370984.4:n.67-86T>C
ENST00000509220.1:n.81-86T>C
NM_017845.3:c.67-86T>C NP_060315.1:n.67-86T>C
XM_006714019.1:c.67-86T>C XP_006714082.1:n.67-86T>C
NM_001329668.1:c.67-86T>C NP_001316597.1:n.67-86T>C
NM_017845.4:c.67-86T>C NP_060315.1:n.67-86T>C
XM_017008330.1:c.67-86T>C XP_016863819.1:n.67-86T>C
NM_017845.5:c.67-86T>C MANE Select NP_060315.1:n.67-86T>C
NM_001329668.2:c.67-86T>C NP_001316597.1:n.67-86T>C