Canonical Allele Identifier: CA911554366

Linked Data

dbSNP Id: rs1169723728
gnomAD v4: 3-8733874-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8733874G>A , CM000665.2:g.8733874G>A GRCh38
NC_000003.11:g.8775560G>A , CM000665.1:g.8775560G>A GRCh37
NC_000003.10:g.8750560G>A NCBI36
NG_008797.2:g.5065G>A , LRG_329:g.5065G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000343849.3:c.-3G>A (CAV3) MANE Select ENSP00000341940.2:n.-3G>A
ENST00000343849.2:c.-3G>A (CAV3) ENSP00000341940.2:n.-3G>A
ENST00000397368.2:c.-3G>A (CAV3) ENSP00000380525.2:n.-3G>A
ENST00000435138.5:c.64+8585C>T (SSUH2) ENSP00000412333.1:n.64+8585C>T
ENST00000472766.1:n.39G>A (CAV3)
ENST00000478513.1:n.335+8585C>T (SSUH2)
NM_001234.4:c.-3G>A (CAV3) NP_001225.1:n.-3G>A
NM_033337.2:c.-3G>A , LRG_329t1:c.-3G>A (CAV3) NP_203123.1:n.-3G>A
XR_940435.1:n.330+8585C>T (SSUH2)
XM_017006530.1:c.-283+8585C>T (SSUH2) XP_016862019.1:n.-283+8585C>T
NM_001234.5:c.-3G>A (CAV3) NP_001225.1:n.-3G>A
NM_033337.3:c.-3G>A (CAV3) MANE Select NP_203123.1:n.-3G>A