Canonical Allele Identifier: CA351663729
Gene: CAV3 HGNC NCBI

Linked Data

gnomAD v4: 3-8745831-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8745831C>G , CM000665.2:g.8745831C>G GRCh38
NC_000003.11:g.8787517C>G , CM000665.1:g.8787517C>G GRCh37
NC_000003.10:g.8762517C>G NCBI36
NG_008797.2:g.17022C>G , LRG_329:g.17022C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000343849.3:c.420C>G MANE Select ENSP00000341940.2:p.Cys140Trp
ENST00000343849.2:c.420C>G ENSP00000341940.2:p.Cys140Trp
ENST00000397368.2:c.420C>G ENSP00000380525.2:p.Cys140Trp
ENST00000472766.1:n.155+11841C>G
NM_001234.4:c.420C>G NP_001225.1:p.Cys140Trp
NM_033337.2:c.420C>G , LRG_329t1:c.420C>G NP_203123.1:p.Cys140Trp
NM_001234.5:c.420C>G NP_001225.1:p.Cys140Trp
NM_033337.3:c.420C>G MANE Select NP_203123.1:p.Cys140Trp