Canonical Allele Identifier: CA11356832
Gene: CMTM8 HGNC NCBI

Linked Data

dbSNP Id: rs4276227
gnomAD v2: 3-32330686-C-T
gnomAD v3: 3-32289194-C-T
gnomAD v4: 3-32289194-C-T

Genomic Alleles

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

Transcript Alleles

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