Canonical Allele Identifier: CA351663523
Gene: CAV3 HGNC NCBI

Linked Data

gnomAD v4: 3-8745736-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8745736A>T , CM000665.2:g.8745736A>T GRCh38
NC_000003.11:g.8787422A>T , CM000665.1:g.8787422A>T GRCh37
NC_000003.10:g.8762422A>T NCBI36
NG_008797.2:g.16927A>T , LRG_329:g.16927A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000343849.3:c.325A>T MANE Select ENSP00000341940.2:p.Ser109Cys
ENST00000343849.2:c.325A>T ENSP00000341940.2:p.Ser109Cys
ENST00000397368.2:c.325A>T ENSP00000380525.2:p.Ser109Cys
ENST00000472766.1:n.155+11746A>T
NM_001234.4:c.325A>T NP_001225.1:p.Ser109Cys
NM_033337.2:c.325A>T , LRG_329t1:c.325A>T NP_203123.1:p.Ser109Cys
NM_001234.5:c.325A>T NP_001225.1:p.Ser109Cys
NM_033337.3:c.325A>T MANE Select NP_203123.1:p.Ser109Cys