Canonical Allele Identifier: CA1344405940

Gene: CAV3

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8745840C= , CM000665.2:g.8745840C=	GRCh38
NC_000003.11:g.8787526C= , CM000665.1:g.8787526C=	GRCh37
NC_000003.10:g.8762526C=	NCBI36
NG_008797.2:g.17031C= , LRG_329:g.17031C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343849.3:c.429C= MANE Select	ENSP00000341940.2:p.Ile143=
ENST00000343849.2:c.429C=	ENSP00000341940.2:p.Ile143=
ENST00000397368.2:c.429C=	ENSP00000380525.2:p.Ile143=
ENST00000472766.1:n.155+11850C=
NM_001234.4:c.429C=	NP_001225.1:p.Ile143=
NM_033337.2:c.429C= , LRG_329t1:c.429C=	NP_203123.1:p.Ile143=
NM_001234.5:c.429C=	NP_001225.1:p.Ile143=
NM_033337.3:c.429C= MANE Select	NP_203123.1:p.Ile143=