Canonical Allele Identifier: CA7786613

Linked Data

ClinVar Variation Id: 2964654
ClinVar RCV Id: RCV003828276
dbSNP Id: rs756314027
gnomAD v2: 16-731606-G-A
gnomAD v3: 16-681606-G-A
gnomAD v4: 16-681606-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.681606G>A , CM000678.2:g.681606G>A GRCh38
NC_000016.9:g.731606G>A , CM000678.1:g.731606G>A GRCh37
NC_000016.8:g.671607G>A NCBI36
NG_034141.1:g.6496G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000219548.9:c.524+3G>A (STUB1) MANE Select ENSP00000219548.4:n.524+3G>A
ENST00000219548.8:c.524+3G>A (STUB1) ENSP00000219548.4:n.524+3G>A
ENST00000563505.5:n.620+3G>A (STUB1)
ENST00000564316.1:c.123+3G>A (STUB1)
ENST00000564370.5:c.308+3G>A (STUB1) ENSP00000456875.1:n.308+3G>A
ENST00000565677.5:c.308+3G>A (STUB1) ENSP00000457228.1:n.308+3G>A
ENST00000566181.2:n.293+3G>A (STUB1)
ENST00000566408.5:c.241+3G>A (STUB1)
ENST00000567173.5:c.467+3G>A (STUB1) ENSP00000456591.1:n.467+3G>A
ENST00000569248.5:n.1098+3G>A (STUB1)
ENST00000620831.4:c.-50+38303G>A (MSLN) ENSP00000482893.1:n.-50+38303G>A
NM_001293197.1:c.308+3G>A (STUB1) NP_001280126.1:n.308+3G>A
NM_005861.3:c.524+3G>A (STUB1) NP_005852.2:n.524+3G>A
NM_005861.4:c.524+3G>A (STUB1) MANE Select NP_005852.2:n.524+3G>A
NM_001293197.2:c.308+3G>A (STUB1) NP_001280126.1:n.308+3G>A