Canonical Allele Identifier: CA551157061

Gene: COMMD8

Linked Data

• dbSNP Id: rs1453235700
• gnomAD v2: 4-47462391-A-G
• gnomAD v3: 4-47460374-A-G
• gnomAD v4: 4-47460374-A-G
• MyVariant Identifiers: chr4:g.47462391A>G (hg19) ; chr4:g.47460374A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.47460374A>G , CM000666.2:g.47460374A>G	GRCh38
NC_000004.11:g.47462391A>G , CM000666.1:g.47462391A>G	GRCh37
NC_000004.10:g.47157148A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381571.6:c.67-75T>C MANE Select	ENSP00000370984.4:n.67-75T>C
ENST00000381571.5:c.67-75T>C	ENSP00000370984.4:n.67-75T>C
ENST00000509220.1:n.81-75T>C
NM_017845.3:c.67-75T>C	NP_060315.1:n.67-75T>C
XM_006714019.1:c.67-75T>C	XP_006714082.1:n.67-75T>C
NM_001329668.1:c.67-75T>C	NP_001316597.1:n.67-75T>C
NM_017845.4:c.67-75T>C	NP_060315.1:n.67-75T>C
XM_017008330.1:c.67-75T>C	XP_016863819.1:n.67-75T>C
NM_017845.5:c.67-75T>C MANE Select	NP_060315.1:n.67-75T>C
NM_001329668.2:c.67-75T>C	NP_001316597.1:n.67-75T>C