Canonical Allele Identifier: CA551157068

Gene: COMMD8

Linked Data

• dbSNP Id: rs1273260493
• gnomAD v2: 4-47462465-T-C
• gnomAD v3: 4-47460448-T-C
• gnomAD v4: 4-47460448-T-C
• MyVariant Identifiers: chr4:g.47462465T>C (hg19) ; chr4:g.47460448T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.47460448T>C , CM000666.2:g.47460448T>C	GRCh38
NC_000004.11:g.47462465T>C , CM000666.1:g.47462465T>C	GRCh37
NC_000004.10:g.47157222T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381571.6:c.67-149A>G MANE Select	ENSP00000370984.4:n.67-149A>G
ENST00000381571.5:c.67-149A>G	ENSP00000370984.4:n.67-149A>G
ENST00000509220.1:n.81-149A>G
NM_017845.3:c.67-149A>G	NP_060315.1:n.67-149A>G
XM_006714019.1:c.67-149A>G	XP_006714082.1:n.67-149A>G
NM_001329668.1:c.67-149A>G	NP_001316597.1:n.67-149A>G
NM_017845.4:c.67-149A>G	NP_060315.1:n.67-149A>G
XM_017008330.1:c.67-149A>G	XP_016863819.1:n.67-149A>G
NM_017845.5:c.67-149A>G MANE Select	NP_060315.1:n.67-149A>G
NM_001329668.2:c.67-149A>G	NP_001316597.1:n.67-149A>G