Canonical Allele Identifier: CA911563365

Gene: CAV3

Linked Data

• dbSNP Id: rs1260036788
• gnomAD v3: 3-8745296-A-T
• gnomAD v4: 3-8745296-A-T
• MyVariant Identifiers: chr3:g.8786982A>T (hg19) ; chr3:g.8745296A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8745296A>T , CM000665.2:g.8745296A>T	GRCh38
NC_000003.11:g.8786982A>T , CM000665.1:g.8786982A>T	GRCh37
NC_000003.10:g.8761982A>T	NCBI36
NG_008797.2:g.16487A>T , LRG_329:g.16487A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343849.3:c.115-230A>T MANE Select	ENSP00000341940.2:n.115-230A>T
ENST00000343849.2:c.115-230A>T	ENSP00000341940.2:n.115-230A>T
ENST00000397368.2:c.115-230A>T	ENSP00000380525.2:n.115-230A>T
ENST00000472766.1:n.155+11306A>T
NM_001234.4:c.115-230A>T	NP_001225.1:n.115-230A>T
NM_033337.2:c.115-230A>T , LRG_329t1:c.115-230A>T	NP_203123.1:n.115-230A>T
NM_001234.5:c.115-230A>T	NP_001225.1:n.115-230A>T
NM_033337.3:c.115-230A>T MANE Select	NP_203123.1:n.115-230A>T