Canonical Allele Identifier: CA2236272

Linked Data

dbSNP Id: rs750311244
gnomAD v2: 3-8775549-C-A
gnomAD v4: 3-8733863-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8733863C>A , CM000665.2:g.8733863C>A GRCh38
NC_000003.11:g.8775549C>A , CM000665.1:g.8775549C>A GRCh37
NC_000003.10:g.8750549C>A NCBI36
NG_008797.2:g.5054C>A , LRG_329:g.5054C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000343849.3:c.-14C>A (CAV3) MANE Select ENSP00000341940.2:n.-14C>A
ENST00000343849.2:c.-14C>A (CAV3) ENSP00000341940.2:n.-14C>A
ENST00000435138.5:c.64+8596G>T (SSUH2) ENSP00000412333.1:n.64+8596G>T
ENST00000472766.1:n.28C>A (CAV3)
ENST00000478513.1:n.335+8596G>T (SSUH2)
NM_001234.4:c.-14C>A (CAV3) NP_001225.1:n.-14C>A
NM_033337.2:c.-14C>A , LRG_329t1:c.-14C>A (CAV3) NP_203123.1:n.-14C>A
XR_940435.1:n.330+8596G>T (SSUH2)
XM_017006530.1:c.-283+8596G>T (SSUH2) XP_016862019.1:n.-283+8596G>T
NM_001234.5:c.-14C>A (CAV3) NP_001225.1:n.-14C>A
NM_033337.3:c.-14C>A (CAV3) MANE Select NP_203123.1:n.-14C>A