Canonical Allele Identifier: CA11436257

Linked Data

dbSNP Id: rs237880

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8741819A>G , CM000665.2:g.8741819A>G GRCh38
NC_000003.11:g.8783505A>G , CM000665.1:g.8783505A>G GRCh37
NC_000003.10:g.8758505A>G NCBI36
NG_008797.2:g.13010A>G , LRG_329:g.13010A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000343849.3:c.115-3707A>G (CAV3) MANE Select ENSP00000341940.2:p.=
ENST00000343849.2:c.115-3707A>G ENSP00000341940.2:p.=
ENST00000397368.2:c.115-3707A>G ENSP00000380525.2:p.=
ENST00000435138.5:c.64+640T>C ENSP00000412333.1:p.=
ENST00000472766.1:n.155+7829A>G
ENST00000478513.1:n.335+640T>C
NM_001234.4:c.115-3707A>G (CAV3) NP_001225.1:p.=
NM_033337.2:c.115-3707A>G , LRG_329t1:c.115-3707A>G (CAV3) NP_203123.1:p.=
XR_940435.1:n.330+640T>C (SSUH2)
XM_017006530.1:c.-283+640T>C (SSUH2) XP_016862019.1:p.=
NM_001234.5:c.115-3707A>G (CAV3) NP_001225.1:p.=
NM_033337.3:c.115-3707A>G (CAV3) MANE Select NP_203123.1:p.=