Canonical Allele Identifier: CA2670531470
Gene: COMMD8 HGNC NCBI

Linked Data

gnomAD v4: 4-47460415-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.47460415G>A , CM000666.2:g.47460415G>A GRCh38
NC_000004.11:g.47462432G>A , CM000666.1:g.47462432G>A GRCh37
NC_000004.10:g.47157189G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000381571.6:c.67-116C>T MANE Select ENSP00000370984.4:n.67-116C>T
ENST00000381571.5:c.67-116C>T ENSP00000370984.4:n.67-116C>T
ENST00000509220.1:n.81-116C>T
NM_017845.3:c.67-116C>T NP_060315.1:n.67-116C>T
XM_006714019.1:c.67-116C>T XP_006714082.1:n.67-116C>T
NM_001329668.1:c.67-116C>T NP_001316597.1:n.67-116C>T
NM_017845.4:c.67-116C>T NP_060315.1:n.67-116C>T
XM_017008330.1:c.67-116C>T XP_016863819.1:n.67-116C>T
NM_017845.5:c.67-116C>T MANE Select NP_060315.1:n.67-116C>T
NM_001329668.2:c.67-116C>T NP_001316597.1:n.67-116C>T