Canonical Allele Identifier: CA1344406015

Gene: CAV3

Linked Data

• dbSNP Id: rs1575478298

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8745981T>C , CM000665.2:g.8745981T>C	GRCh38
NC_000003.11:g.8787667T>C , CM000665.1:g.8787667T>C	GRCh37
NC_000003.10:g.8762667T>C	NCBI36
NG_008797.2:g.17172T>C , LRG_329:g.17172T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343849.3:c.*114T>C MANE Select	ENSP00000341940.2:n.*114T>C
ENST00000343849.2:c.*114T>C	ENSP00000341940.2:n.*114T>C
ENST00000397368.2:c.*18T>C	ENSP00000380525.2:n.*18T>C
ENST00000472766.1:n.155+11991T>C
NM_001234.4:c.*18T>C	NP_001225.1:n.*18T>C
NM_033337.2:c.*114T>C , LRG_329t1:c.*114T>C	NP_203123.1:n.*114T>C
NM_001234.5:c.*18T>C	NP_001225.1:n.*18T>C
NM_033337.3:c.*114T>C MANE Select	NP_203123.1:n.*114T>C