Canonical Allele Identifier: CA351663117
Gene: CAV3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8745530A>C , CM000665.2:g.8745530A>C GRCh38
NC_000003.11:g.8787216A>C , CM000665.1:g.8787216A>C GRCh37
NC_000003.10:g.8762216A>C NCBI36
NG_008797.2:g.16721A>C , LRG_329:g.16721A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000343849.3:c.119A>C MANE Select ENSP00000341940.2:p.Asp40Ala
ENST00000343849.2:c.119A>C ENSP00000341940.2:p.Asp40Ala
ENST00000397368.2:c.119A>C ENSP00000380525.2:p.Asp40Ala
ENST00000472766.1:n.155+11540A>C
NM_001234.4:c.119A>C NP_001225.1:p.Asp40Ala
NM_033337.2:c.119A>C , LRG_329t1:c.119A>C NP_203123.1:p.Asp40Ala
NM_001234.5:c.119A>C NP_001225.1:p.Asp40Ala
NM_033337.3:c.119A>C MANE Select NP_203123.1:p.Asp40Ala