Canonical Allele Identifier: CA911564988

Gene: CAV3

Linked Data

• dbSNP Id: rs1162958015
• gnomAD v4: 3-8745971-G-T
• MyVariant Identifiers: chr3:g.8787657G>T (hg19) ; chr3:g.8745971G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8745971G>T , CM000665.2:g.8745971G>T	GRCh38
NC_000003.11:g.8787657G>T , CM000665.1:g.8787657G>T	GRCh37
NC_000003.10:g.8762657G>T	NCBI36
NG_008797.2:g.17162G>T , LRG_329:g.17162G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343849.3:c.*104G>T MANE Select	ENSP00000341940.2:n.*104G>T
ENST00000343849.2:c.*104G>T	ENSP00000341940.2:n.*104G>T
ENST00000397368.2:c.*8G>T	ENSP00000380525.2:n.*8G>T
ENST00000472766.1:n.155+11981G>T
NM_001234.4:c.*8G>T	NP_001225.1:n.*8G>T
NM_033337.2:c.*104G>T , LRG_329t1:c.*104G>T	NP_203123.1:n.*104G>T
NM_001234.5:c.*8G>T	NP_001225.1:n.*8G>T
NM_033337.3:c.*104G>T MANE Select	NP_203123.1:n.*104G>T