Canonical Allele Identifier: CA1046557902
Gene: CMTM8 HGNC NCBI

Linked Data

dbSNP Id: rs4276227
gnomAD v3: 3-32289194-C-A
gnomAD v4: 3-32289194-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.32289194C>A , CM000665.2:g.32289194C>A GRCh38
NC_000003.11:g.32330686C>A , CM000665.1:g.32330686C>A GRCh37
NC_000003.10:g.32305690C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000307526.4:c.147+50075C>A MANE Select ENSP00000307741.3:n.147+50075C>A
ENST00000307526.3:c.147+50075C>A ENSP00000307741.3:n.147+50075C>A
ENST00000458535.6:c.147+50075C>A ENSP00000412934.2:n.147+50075C>A
NM_178868.3:c.147+50075C>A NP_849199.2:n.147+50075C>A
XM_011533416.1:c.216+6535C>A XP_011531718.1:n.216+6535C>A
XM_011533417.1:c.147+50075C>A XP_011531719.1:n.147+50075C>A
NM_001320308.1:c.147+50075C>A NP_001307237.1:n.147+50075C>A
NM_178868.4:c.147+50075C>A NP_849199.2:n.147+50075C>A
XM_011533416.3:c.216+6535C>A XP_011531718.1:n.216+6535C>A
NM_178868.5:c.147+50075C>A MANE Select NP_849199.2:n.147+50075C>A
NM_001320308.2:c.147+50075C>A NP_001307237.1:n.147+50075C>A