Canonical Allele Identifier: CA11360483
Gene: CAMKV HGNC NCBI

Linked Data

dbSNP Id: rs6446187
gnomAD v2: 3-49907111-C-A
gnomAD v3: 3-49869678-C-A
gnomAD v4: 3-49869678-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49869678C>A , CM000665.2:g.49869678C>A GRCh38
NC_000003.11:g.49907111C>A , CM000665.1:g.49907111C>A GRCh37
NC_000003.10:g.49882115C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000477224.6:c.-15+80G>T MANE Select ENSP00000419195.1:n.-15+80G>T
ENST00000296471.11:c.-15+80G>T ENSP00000296471.6:n.-15+80G>T
ENST00000463537.5:c.-15+80G>T ENSP00000417614.1:n.-15+80G>T
ENST00000466535.5:c.-15+80G>T ENSP00000420766.1:n.-15+80G>T
ENST00000466940.5:c.-15+80G>T ENSP00000420724.1:n.-15+80G>T
ENST00000467248.5:c.-202+80G>T ENSP00000420053.1:n.-202+80G>T
ENST00000475665.5:n.146+80G>T
ENST00000476105.1:n.148+80G>T
ENST00000477224.5:c.-15+80G>T ENSP00000419195.1:n.-15+80G>T
ENST00000479704.5:n.148+80G>T
ENST00000480398.2:c.-15+80G>T ENSP00000420000.2:n.-15+80G>T
ENST00000487726.5:c.-15+80G>T ENSP00000420139.1:n.-15+80G>T
ENST00000488336.5:c.-15+80G>T ENSP00000418809.1:n.-15+80G>T
ENST00000498324.5:n.148+80G>T
NM_024046.3:c.-15+80G>T NP_076951.2:n.-15+80G>T
XM_005265478.1:c.-15+80G>T XP_005265535.1:n.-15+80G>T
NM_001320147.1:c.-15+80G>T NP_001307076.1:n.-15+80G>T
NM_024046.4:c.-15+80G>T NP_076951.2:n.-15+80G>T
NM_024046.5:c.-15+80G>T MANE Select NP_076951.2:n.-15+80G>T
NM_001320147.2:c.-15+80G>T NP_001307076.1:n.-15+80G>T