Canonical Allele Identifier: CA540847575
Gene: CAV3 HGNC NCBI

Linked Data

dbSNP Id: rs1266078186
gnomAD v2: 3-8787557-C-T
gnomAD v3: 3-8745871-C-T
gnomAD v4: 3-8745871-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8745871C>T , CM000665.2:g.8745871C>T GRCh38
NC_000003.11:g.8787557C>T , CM000665.1:g.8787557C>T GRCh37
NC_000003.10:g.8762557C>T NCBI36
NG_008797.2:g.17062C>T , LRG_329:g.17062C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000343849.3:c.*4C>T MANE Select ENSP00000341940.2:n.*4C>T
ENST00000343849.2:c.*4C>T ENSP00000341940.2:n.*4C>T
ENST00000397368.2:c.*4C>T ENSP00000380525.2:n.*4C>T
ENST00000472766.1:n.155+11881C>T
NM_001234.4:c.*4C>T NP_001225.1:n.*4C>T
NM_033337.2:c.*4C>T , LRG_329t1:c.*4C>T NP_203123.1:n.*4C>T
NM_001234.5:c.*4C>T NP_001225.1:n.*4C>T
NM_033337.3:c.*4C>T MANE Select NP_203123.1:n.*4C>T