Canonical Allele Identifier: CA96644205

Gene: COMMD8

Linked Data

• dbSNP Id: rs955578530
• gnomAD v2: 4-47462398-G-A
• gnomAD v3: 4-47460381-G-A
• gnomAD v4: 4-47460381-G-A
• MyVariant Identifiers: chr4:g.47462398G>A (hg19) ; chr4:g.47460381G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.47460381G>A , CM000666.2:g.47460381G>A	GRCh38
NC_000004.11:g.47462398G>A , CM000666.1:g.47462398G>A	GRCh37
NC_000004.10:g.47157155G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381571.6:c.67-82C>T MANE Select	ENSP00000370984.4:n.67-82C>T
ENST00000381571.5:c.67-82C>T	ENSP00000370984.4:n.67-82C>T
ENST00000509220.1:n.81-82C>T
NM_017845.3:c.67-82C>T	NP_060315.1:n.67-82C>T
XM_006714019.1:c.67-82C>T	XP_006714082.1:n.67-82C>T
NM_001329668.1:c.67-82C>T	NP_001316597.1:n.67-82C>T
NM_017845.4:c.67-82C>T	NP_060315.1:n.67-82C>T
XM_017008330.1:c.67-82C>T	XP_016863819.1:n.67-82C>T
NM_017845.5:c.67-82C>T MANE Select	NP_060315.1:n.67-82C>T
NM_001329668.2:c.67-82C>T	NP_001316597.1:n.67-82C>T