Canonical Allele Identifier: CA379351850

Gene: CAVIN3

Linked Data

• MyVariant Identifiers: chr11:g.6340433G>T (hg19) ; chr11:g.6319203G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6319203G>T , CM000673.2:g.6319203G>T	GRCh38
NC_000011.9:g.6340433G>T , CM000673.1:g.6340433G>T	GRCh37
NC_000011.8:g.6297009G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303927.4:c.746C>A MANE Select	ENSP00000307292.3:p.Ala249Asp
ENST00000303927.3:c.746C>A	ENSP00000307292.3:p.Ala249Asp
ENST00000524852.1:n.532C>A
ENST00000530979.1:c.842C>A	ENSP00000432047.1:p.Ala281Asp
ENST00000532354.1:n.768C>A
NM_145040.2:c.746C>A	NP_659477.2:p.Ala249Asp
XR_930997.1:n.720+983G>T
XR_242848.4:n.63G>T
NM_145040.3:c.746C>A MANE Select	NP_659477.2:p.Ala249Asp