Canonical Allele Identifier: CA351663697

Gene: CAV3

Linked Data

• MyVariant Identifiers: chr3:g.8787501C>G (hg19) ; chr3:g.8745815C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8745815C>G , CM000665.2:g.8745815C>G	GRCh38
NC_000003.11:g.8787501C>G , CM000665.1:g.8787501C>G	GRCh37
NC_000003.10:g.8762501C>G	NCBI36
NG_008797.2:g.17006C>G , LRG_329:g.17006C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343849.3:c.404C>G MANE Select	ENSP00000341940.2:p.Ala135Gly
ENST00000343849.2:c.404C>G	ENSP00000341940.2:p.Ala135Gly
ENST00000397368.2:c.404C>G	ENSP00000380525.2:p.Ala135Gly
ENST00000472766.1:n.155+11825C>G
NM_001234.4:c.404C>G	NP_001225.1:p.Ala135Gly
NM_033337.2:c.404C>G , LRG_329t1:c.404C>G	NP_203123.1:p.Ala135Gly
NM_001234.5:c.404C>G	NP_001225.1:p.Ala135Gly
NM_033337.3:c.404C>G MANE Select	NP_203123.1:p.Ala135Gly