Canonical Allele Identifier: CA1344402304

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8738719A= , CM000665.2:g.8738719A= GRCh38
NC_000003.11:g.8780405A= , CM000665.1:g.8780405A= GRCh37
NC_000003.10:g.8755405A= NCBI36
NG_008797.2:g.9910A= , LRG_329:g.9910A=

Transcript Alleles

HGVS Amino-acid change
ENST00000343849.3:c.114+4729A= (CAV3) MANE Select ENSP00000341940.2:n.114+4729A=
ENST00000343849.2:c.114+4729A= (CAV3) ENSP00000341940.2:n.114+4729A=
ENST00000397368.2:c.114+4729A= (CAV3) ENSP00000380525.2:n.114+4729A=
ENST00000435138.5:c.64+3740T= (SSUH2) ENSP00000412333.1:n.64+3740T=
ENST00000472766.1:n.155+4729A= (CAV3)
ENST00000478513.1:n.335+3740T= (SSUH2)
NM_001234.4:c.114+4729A= (CAV3) NP_001225.1:n.114+4729A=
NM_033337.2:c.114+4729A= , LRG_329t1:c.114+4729A= (CAV3) NP_203123.1:n.114+4729A=
XR_940435.1:n.330+3740T= (SSUH2)
XM_017006530.1:c.-283+3740T= (SSUH2) XP_016862019.1:n.-283+3740T=
NM_001234.5:c.114+4729A= (CAV3) NP_001225.1:n.114+4729A=
NM_033337.3:c.114+4729A= (CAV3) MANE Select NP_203123.1:n.114+4729A=