Canonical Allele Identifier: CA432525918

Gene: CAV3

Linked Data

• gnomAD v4: 3-8745630-C-T
• COSMIC: COSM3597828
• MyVariant Identifiers: chr3:g.8787316C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8745630C>T , CM000665.2:g.8745630C>T	GRCh38
NC_000003.11:g.8787316C>T , CM000665.1:g.8787316C>T	GRCh37
NC_000003.10:g.8762316C>T	NCBI36
NG_008797.2:g.16821C>T , LRG_329:g.16821C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343849.3:c.219C>T MANE Select	ENSP00000341940.2:p.Tyr73=
ENST00000343849.2:c.219C>T	ENSP00000341940.2:p.Tyr73=
ENST00000397368.2:c.219C>T	ENSP00000380525.2:p.Tyr73=
ENST00000472766.1:n.155+11640C>T
NM_001234.4:c.219C>T	NP_001225.1:p.Tyr73=
NM_033337.2:c.219C>T , LRG_329t1:c.219C>T	NP_203123.1:p.Tyr73=
NM_001234.5:c.219C>T	NP_001225.1:p.Tyr73=
NM_033337.3:c.219C>T MANE Select	NP_203123.1:p.Tyr73=