Canonical Allele Identifier: CA2578079593
Gene: COMMD8 HGNC NCBI

Linked Data

gnomAD v4: 4-47460377-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.47460377G>T , CM000666.2:g.47460377G>T GRCh38
NC_000004.11:g.47462394G>T , CM000666.1:g.47462394G>T GRCh37
NC_000004.10:g.47157151G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000381571.6:c.67-78C>A MANE Select ENSP00000370984.4:n.67-78C>A
ENST00000381571.5:c.67-78C>A ENSP00000370984.4:n.67-78C>A
ENST00000509220.1:n.81-78C>A
NM_017845.3:c.67-78C>A NP_060315.1:n.67-78C>A
XM_006714019.1:c.67-78C>A XP_006714082.1:n.67-78C>A
NM_001329668.1:c.67-78C>A NP_001316597.1:n.67-78C>A
NM_017845.4:c.67-78C>A NP_060315.1:n.67-78C>A
XM_017008330.1:c.67-78C>A XP_016863819.1:n.67-78C>A
NM_017845.5:c.67-78C>A MANE Select NP_060315.1:n.67-78C>A
NM_001329668.2:c.67-78C>A NP_001316597.1:n.67-78C>A