Canonical Allele Identifier: CA2236340

Gene: CAV3

Linked Data

• dbSNP Id: rs778563715
• ExAC: 3:8787339 G / A
• gnomAD v2: 3-8787339-G-A
• gnomAD v4: 3-8745653-G-A
• MyVariant Identifiers: chr3:g.8787339G>A (hg19) ; chr3:g.8745653G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8745653G>A , CM000665.2:g.8745653G>A	GRCh38
NC_000003.11:g.8787339G>A , CM000665.1:g.8787339G>A	GRCh37
NC_000003.10:g.8762339G>A	NCBI36
NG_008797.2:g.16844G>A , LRG_329:g.16844G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343849.3:c.242G>A MANE Select	ENSP00000341940.2:p.Gly81Asp
ENST00000343849.2:c.242G>A	ENSP00000341940.2:p.Gly81Asp
ENST00000397368.2:c.242G>A	ENSP00000380525.2:p.Gly81Asp
ENST00000472766.1:n.155+11663G>A
NM_001234.4:c.242G>A	NP_001225.1:p.Gly81Asp
NM_033337.2:c.242G>A , LRG_329t1:c.242G>A	NP_203123.1:p.Gly81Asp
NM_001234.5:c.242G>A	NP_001225.1:p.Gly81Asp
NM_033337.3:c.242G>A MANE Select	NP_203123.1:p.Gly81Asp