Canonical Allele Identifier: CA2664271290
Gene: CAV3 HGNC NCBI

Linked Data

gnomAD v4: 3-8745424-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8745424A>T , CM000665.2:g.8745424A>T GRCh38
NC_000003.11:g.8787110A>T , CM000665.1:g.8787110A>T GRCh37
NC_000003.10:g.8762110A>T NCBI36
NG_008797.2:g.16615A>T , LRG_329:g.16615A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000343849.3:c.115-102A>T MANE Select ENSP00000341940.2:n.115-102A>T
ENST00000343849.2:c.115-102A>T ENSP00000341940.2:n.115-102A>T
ENST00000397368.2:c.115-102A>T ENSP00000380525.2:n.115-102A>T
ENST00000472766.1:n.155+11434A>T
NM_001234.4:c.115-102A>T NP_001225.1:n.115-102A>T
NM_033337.2:c.115-102A>T , LRG_329t1:c.115-102A>T NP_203123.1:n.115-102A>T
NM_001234.5:c.115-102A>T NP_001225.1:n.115-102A>T
NM_033337.3:c.115-102A>T MANE Select NP_203123.1:n.115-102A>T