Canonical Allele Identifier: CA351663120
Gene: CAV3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8745531T>G , CM000665.2:g.8745531T>G GRCh38
NC_000003.11:g.8787217T>G , CM000665.1:g.8787217T>G GRCh37
NC_000003.10:g.8762217T>G NCBI36
NG_008797.2:g.16722T>G , LRG_329:g.16722T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000343849.3:c.120T>G MANE Select ENSP00000341940.2:p.Asp40Glu
ENST00000343849.2:c.120T>G ENSP00000341940.2:p.Asp40Glu
ENST00000397368.2:c.120T>G ENSP00000380525.2:p.Asp40Glu
ENST00000472766.1:n.155+11541T>G
NM_001234.4:c.120T>G NP_001225.1:p.Asp40Glu
NM_033337.2:c.120T>G , LRG_329t1:c.120T>G NP_203123.1:p.Asp40Glu
NM_001234.5:c.120T>G NP_001225.1:p.Asp40Glu
NM_033337.3:c.120T>G MANE Select NP_203123.1:p.Asp40Glu