Canonical Allele Identifier: CA2841241796

Gene: CAV3

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8745885G>A , CM000665.2:g.8745885G>A	GRCh38
NC_000003.11:g.8787571G>A , CM000665.1:g.8787571G>A	GRCh37
NC_000003.10:g.8762571G>A	NCBI36
NG_008797.2:g.17076G>A , LRG_329:g.17076G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343849.3:c.*18G>A MANE Select	ENSP00000341940.2:n.*18G>A
ENST00000343849.2:c.*18G>A	ENSP00000341940.2:n.*18G>A
ENST00000397368.2:c.*6+12G>A	ENSP00000380525.2:n.*6+12G>A
ENST00000472766.1:n.155+11895G>A
NM_001234.4:c.*6+12G>A	NP_001225.1:n.*6+12G>A
NM_033337.2:c.*18G>A , LRG_329t1:c.*18G>A	NP_203123.1:n.*18G>A
NM_001234.5:c.*6+12G>A	NP_001225.1:n.*6+12G>A
NM_033337.3:c.*18G>A MANE Select	NP_203123.1:n.*18G>A