Canonical Allele Identifier: CA432526582

Gene: CAV3

Linked Data

• gnomAD v4: 3-8745852-G-T
• MyVariant Identifiers: chr3:g.8787538G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8745852G>T , CM000665.2:g.8745852G>T	GRCh38
NC_000003.11:g.8787538G>T , CM000665.1:g.8787538G>T	GRCh37
NC_000003.10:g.8762538G>T	NCBI36
NG_008797.2:g.17043G>T , LRG_329:g.17043G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343849.3:c.441G>T MANE Select	ENSP00000341940.2:p.Leu147=
ENST00000343849.2:c.441G>T	ENSP00000341940.2:p.Leu147=
ENST00000397368.2:c.441G>T	ENSP00000380525.2:p.Leu147=
ENST00000472766.1:n.155+11862G>T
NM_001234.4:c.441G>T	NP_001225.1:p.Leu147=
NM_033337.2:c.441G>T , LRG_329t1:c.441G>T	NP_203123.1:p.Leu147=
NM_001234.5:c.441G>T	NP_001225.1:p.Leu147=
NM_033337.3:c.441G>T MANE Select	NP_203123.1:p.Leu147=