Canonical Allele Identifier: CA351663338

Gene: CAV3

Linked Data

• MyVariant Identifiers: chr3:g.8787325G>T (hg19) ; chr3:g.8745639G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8745639G>T , CM000665.2:g.8745639G>T	GRCh38
NC_000003.11:g.8787325G>T , CM000665.1:g.8787325G>T	GRCh37
NC_000003.10:g.8762325G>T	NCBI36
NG_008797.2:g.16830G>T , LRG_329:g.16830G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343849.3:c.228G>T MANE Select	ENSP00000341940.2:p.Leu76Phe
ENST00000343849.2:c.228G>T	ENSP00000341940.2:p.Leu76Phe
ENST00000397368.2:c.228G>T	ENSP00000380525.2:p.Leu76Phe
ENST00000472766.1:n.155+11649G>T
NM_001234.4:c.228G>T	NP_001225.1:p.Leu76Phe
NM_033337.2:c.228G>T , LRG_329t1:c.228G>T	NP_203123.1:p.Leu76Phe
NM_001234.5:c.228G>T	NP_001225.1:p.Leu76Phe
NM_033337.3:c.228G>T MANE Select	NP_203123.1:p.Leu76Phe