Canonical Allele Identifier: CA540845439

Linked Data

dbSNP Id: rs1259919492
gnomAD v2: 3-8775519-C-T
gnomAD v4: 3-8733833-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8733833C>T , CM000665.2:g.8733833C>T GRCh38
NC_000003.11:g.8775519C>T , CM000665.1:g.8775519C>T GRCh37
NC_000003.10:g.8750519C>T NCBI36
NG_008797.2:g.5024C>T , LRG_329:g.5024C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000343849.3:c.-44C>T (CAV3) MANE Select ENSP00000341940.2:n.-44C>T
ENST00000343849.2:c.-44C>T (CAV3) ENSP00000341940.2:n.-44C>T
ENST00000435138.5:c.64+8626G>A (SSUH2) ENSP00000412333.1:n.64+8626G>A
ENST00000478513.1:n.335+8626G>A (SSUH2)
NM_001234.4:c.-44C>T (CAV3) NP_001225.1:n.-44C>T
NM_033337.2:c.-44C>T , LRG_329t1:c.-44C>T (CAV3) NP_203123.1:n.-44C>T
XR_940435.1:n.330+8626G>A (SSUH2)
XM_017006530.1:c.-283+8626G>A (SSUH2) XP_016862019.1:n.-283+8626G>A
NM_001234.5:c.-44C>T (CAV3) NP_001225.1:n.-44C>T
NM_033337.3:c.-44C>T (CAV3) MANE Select NP_203123.1:n.-44C>T