Canonical Allele Identifier: CA351663115
Gene: CAV3 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000343849.3:c.118G>C MANE Select ENSP00000341940.2:p.Asp40His
ENST00000343849.2:c.118G>C ENSP00000341940.2:p.Asp40His
ENST00000397368.2:c.118G>C ENSP00000380525.2:p.Asp40His
ENST00000472766.1:n.155+11539G>C
NM_001234.4:c.118G>C NP_001225.1:p.Asp40His
NM_033337.2:c.118G>C , LRG_329t1:c.118G>C NP_203123.1:p.Asp40His
NM_001234.5:c.118G>C NP_001225.1:p.Asp40His
NM_033337.3:c.118G>C MANE Select NP_203123.1:p.Asp40His