Canonical Allele Identifier: CA1344405719
Gene: CAV3 HGNC NCBI

Linked Data

dbSNP Id: rs1708123200
gnomAD v4: 3-8745471-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8745471G>T , CM000665.2:g.8745471G>T GRCh38
NC_000003.11:g.8787157G>T , CM000665.1:g.8787157G>T GRCh37
NC_000003.10:g.8762157G>T NCBI36
NG_008797.2:g.16662G>T , LRG_329:g.16662G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000343849.3:c.115-55G>T MANE Select ENSP00000341940.2:n.115-55G>T
ENST00000343849.2:c.115-55G>T ENSP00000341940.2:n.115-55G>T
ENST00000397368.2:c.115-55G>T ENSP00000380525.2:n.115-55G>T
ENST00000472766.1:n.155+11481G>T
NM_001234.4:c.115-55G>T NP_001225.1:n.115-55G>T
NM_033337.2:c.115-55G>T , LRG_329t1:c.115-55G>T NP_203123.1:n.115-55G>T
NM_001234.5:c.115-55G>T NP_001225.1:n.115-55G>T
NM_033337.3:c.115-55G>T MANE Select NP_203123.1:n.115-55G>T