Canonical Allele Identifier: CA795486238
Gene: COMMD8 HGNC NCBI

Linked Data

dbSNP Id: rs1463182418
gnomAD v4: 4-47460389-T-G
MyVariant Identifiers: chr4:g.47462406T>G (hg19) chr4:g.47460389T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.47460389T>G , CM000666.2:g.47460389T>G GRCh38
NC_000004.11:g.47462406T>G , CM000666.1:g.47462406T>G GRCh37
NC_000004.10:g.47157163T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000381571.6:c.67-90A>C MANE Select ENSP00000370984.4:n.67-90A>C
ENST00000381571.5:c.67-90A>C ENSP00000370984.4:n.67-90A>C
ENST00000509220.1:n.81-90A>C
NM_017845.3:c.67-90A>C NP_060315.1:n.67-90A>C
XM_006714019.1:c.67-90A>C XP_006714082.1:n.67-90A>C
NM_001329668.1:c.67-90A>C NP_001316597.1:n.67-90A>C
NM_017845.4:c.67-90A>C NP_060315.1:n.67-90A>C
XM_017008330.1:c.67-90A>C XP_016863819.1:n.67-90A>C
NM_017845.5:c.67-90A>C MANE Select NP_060315.1:n.67-90A>C
NM_001329668.2:c.67-90A>C NP_001316597.1:n.67-90A>C
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