Canonical Allele Identifier: CA351663760

Gene: CAV3

Linked Data

• dbSNP Id: rs1361272526
• gnomAD v2: 3-8787529-G-T
• gnomAD v4: 3-8745843-G-T
• MyVariant Identifiers: chr3:g.8787529G>T (hg19) ; chr3:g.8745843G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8745843G>T , CM000665.2:g.8745843G>T	GRCh38
NC_000003.11:g.8787529G>T , CM000665.1:g.8787529G>T	GRCh37
NC_000003.10:g.8762529G>T	NCBI36
NG_008797.2:g.17034G>T , LRG_329:g.17034G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343849.3:c.432G>T MANE Select	ENSP00000341940.2:p.Lys144Asn
ENST00000343849.2:c.432G>T	ENSP00000341940.2:p.Lys144Asn
ENST00000397368.2:c.432G>T	ENSP00000380525.2:p.Lys144Asn
ENST00000472766.1:n.155+11853G>T
NM_001234.4:c.432G>T	NP_001225.1:p.Lys144Asn
NM_033337.2:c.432G>T , LRG_329t1:c.432G>T	NP_203123.1:p.Lys144Asn
NM_001234.5:c.432G>T	NP_001225.1:p.Lys144Asn
NM_033337.3:c.432G>T MANE Select	NP_203123.1:p.Lys144Asn