Canonical Allele Identifier: CA8907895
Gene: MIB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 506384
ClinVar RCV Id: RCV000608488
dbSNP Id: rs542215308
ExAC: 18:19321499 G / A
gnomAD v2: 18-19321499-G-A
gnomAD v3: 18-21741538-G-A
gnomAD v4: 18-21741538-G-A
MyVariant Identifiers: chr18:g.19321499G>A (hg19) chr18:g.21741538G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.21741538G>A , CM000680.2:g.21741538G>A GRCh38
NC_000018.9:g.19321499G>A , CM000680.1:g.19321499G>A GRCh37
NC_000018.8:g.17575497G>A NCBI36
NG_033272.2:g.41582G>A , LRG_759:g.41582G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261537.7:c.-46G>A MANE Select ENSP00000261537.6:n.-46G>A
ENST00000261537.6:c.-46G>A ENSP00000261537.6:n.-46G>A
ENST00000578646.5:n.168-24234G>A
NM_020774.3:c.-46G>A , LRG_759t1:c.-46G>A NP_065825.1:n.-46G>A
XR_935234.1:n.746G>A
XR_935235.1:n.746G>A
XM_017025874.1:c.-46G>A XP_016881363.1:n.-46G>A
XM_017025875.1:c.-46G>A XP_016881364.1:n.-46G>A
NM_020774.4:c.-46G>A MANE Select NP_065825.1:n.-46G>A
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