Canonical Allele Identifier: CA911554282

Gene: CAV3 SSUH2

Linked Data

• dbSNP Id: rs1275567168
• gnomAD v4: 3-8733836-C-T
• MyVariant Identifiers: chr3:g.8775522C>T (hg19) ; chr3:g.8733836C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8733836C>T , CM000665.2:g.8733836C>T	GRCh38
NC_000003.11:g.8775522C>T , CM000665.1:g.8775522C>T	GRCh37
NC_000003.10:g.8750522C>T	NCBI36
NG_008797.2:g.5027C>T , LRG_329:g.5027C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000343849.3:c.-41C>T (CAV3) MANE Select	ENSP00000341940.2:n.-41C>T
ENST00000343849.2:c.-41C>T (CAV3)	ENSP00000341940.2:n.-41C>T
ENST00000435138.5:c.64+8623G>A (SSUH2)	ENSP00000412333.1:n.64+8623G>A
ENST00000472766.1:n.1C>T (CAV3)
ENST00000478513.1:n.335+8623G>A (SSUH2)
NM_001234.4:c.-41C>T (CAV3)	NP_001225.1:n.-41C>T
NM_033337.2:c.-41C>T , LRG_329t1:c.-41C>T (CAV3)	NP_203123.1:n.-41C>T
XR_940435.1:n.330+8623G>A (SSUH2)
XM_017006530.1:c.-283+8623G>A (SSUH2)	XP_016862019.1:n.-283+8623G>A
NM_001234.5:c.-41C>T (CAV3)	NP_001225.1:n.-41C>T
NM_033337.3:c.-41C>T (CAV3) MANE Select	NP_203123.1:n.-41C>T