Canonical Allele Identifier: CA408920472
Gene: CHMP4B HGNC NCBI

Linked Data

dbSNP Id: rs1367439798
gnomAD v2: 20-32438793-T-C
gnomAD v4: 20-33850987-T-C
MyVariant Identifiers: chr20:g.32438793T>C (hg19) chr20:g.33850987T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.33850987T>C , CM000682.2:g.33850987T>C GRCh38
NC_000020.10:g.32438793T>C , CM000682.1:g.32438793T>C GRCh37
NC_000020.9:g.31902454T>C NCBI36
NG_015820.1:g.44684T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000217402.3:c.404T>C MANE Select ENSP00000217402.2:p.Ile135Thr
ENST00000217402.2:c.404T>C ENSP00000217402.2:p.Ile135Thr
NM_176812.4:c.404T>C NP_789782.1:p.Ile135Thr
NM_176812.5:c.404T>C MANE Select NP_789782.1:p.Ile135Thr
Search 100 bp 5'
Search 100 bp 3'