Canonical Allele Identifier: CA432526489

Gene: CAV3

Linked Data

• MyVariant Identifiers: chr3:g.8787490A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8745804A>C , CM000665.2:g.8745804A>C	GRCh38
NC_000003.11:g.8787490A>C , CM000665.1:g.8787490A>C	GRCh37
NC_000003.10:g.8762490A>C	NCBI36
NG_008797.2:g.16995A>C , LRG_329:g.16995A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343849.3:c.393A>C MANE Select	ENSP00000341940.2:p.Pro131=
ENST00000343849.2:c.393A>C	ENSP00000341940.2:p.Pro131=
ENST00000397368.2:c.393A>C	ENSP00000380525.2:p.Pro131=
ENST00000472766.1:n.155+11814A>C
NM_001234.4:c.393A>C	NP_001225.1:p.Pro131=
NM_033337.2:c.393A>C , LRG_329t1:c.393A>C	NP_203123.1:p.Pro131=
NM_001234.5:c.393A>C	NP_001225.1:p.Pro131=
NM_033337.3:c.393A>C MANE Select	NP_203123.1:p.Pro131=