Canonical Allele Identifier: CA551157067

Gene: COMMD8

Linked Data

• dbSNP Id: rs1215853296
• gnomAD v2: 4-47462447-C-A
• gnomAD v4: 4-47460430-C-A
• MyVariant Identifiers: chr4:g.47462447C>A (hg19) ; chr4:g.47460430C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.47460430C>A , CM000666.2:g.47460430C>A	GRCh38
NC_000004.11:g.47462447C>A , CM000666.1:g.47462447C>A	GRCh37
NC_000004.10:g.47157204C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381571.6:c.67-131G>T MANE Select	ENSP00000370984.4:n.67-131G>T
ENST00000381571.5:c.67-131G>T	ENSP00000370984.4:n.67-131G>T
ENST00000509220.1:n.81-131G>T
NM_017845.3:c.67-131G>T	NP_060315.1:n.67-131G>T
XM_006714019.1:c.67-131G>T	XP_006714082.1:n.67-131G>T
NM_001329668.1:c.67-131G>T	NP_001316597.1:n.67-131G>T
NM_017845.4:c.67-131G>T	NP_060315.1:n.67-131G>T
XM_017008330.1:c.67-131G>T	XP_016863819.1:n.67-131G>T
NM_017845.5:c.67-131G>T MANE Select	NP_060315.1:n.67-131G>T
NM_001329668.2:c.67-131G>T	NP_001316597.1:n.67-131G>T