Canonical Allele Identifier: CA510407192
Gene: CHMP4B HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.32438780T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.33850974T>C , CM000682.2:g.33850974T>C GRCh38
NC_000020.10:g.32438780T>C , CM000682.1:g.32438780T>C GRCh37
NC_000020.9:g.31902441T>C NCBI36
NG_015820.1:g.44671T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000217402.3:c.391T>C MANE Select ENSP00000217402.2:p.Leu131=
ENST00000217402.2:c.391T>C ENSP00000217402.2:p.Leu131=
NM_176812.4:c.391T>C NP_789782.1:p.Leu131=
NM_176812.5:c.391T>C MANE Select NP_789782.1:p.Leu131=