Canonical Allele Identifier: CA351663116
Gene: CAV3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8745529G>T , CM000665.2:g.8745529G>T GRCh38
NC_000003.11:g.8787215G>T , CM000665.1:g.8787215G>T GRCh37
NC_000003.10:g.8762215G>T NCBI36
NG_008797.2:g.16720G>T , LRG_329:g.16720G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000343849.3:c.118G>T MANE Select ENSP00000341940.2:p.Asp40Tyr
ENST00000343849.2:c.118G>T ENSP00000341940.2:p.Asp40Tyr
ENST00000397368.2:c.118G>T ENSP00000380525.2:p.Asp40Tyr
ENST00000472766.1:n.155+11539G>T
NM_001234.4:c.118G>T NP_001225.1:p.Asp40Tyr
NM_033337.2:c.118G>T , LRG_329t1:c.118G>T NP_203123.1:p.Asp40Tyr
NM_001234.5:c.118G>T NP_001225.1:p.Asp40Tyr
NM_033337.3:c.118G>T MANE Select NP_203123.1:p.Asp40Tyr