Canonical Allele Identifier: CA7786614

Linked Data

dbSNP Id: rs758124201
gnomAD v2: 16-731607-G-C
gnomAD v4: 16-681607-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.681607G>C , CM000678.2:g.681607G>C GRCh38
NC_000016.9:g.731607G>C , CM000678.1:g.731607G>C GRCh37
NC_000016.8:g.671608G>C NCBI36
NG_034141.1:g.6497G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000219548.9:c.524+4G>C (STUB1) MANE Select ENSP00000219548.4:n.524+4G>C
ENST00000219548.8:c.524+4G>C (STUB1) ENSP00000219548.4:n.524+4G>C
ENST00000563505.5:n.620+4G>C (STUB1)
ENST00000564316.1:c.123+4G>C (STUB1)
ENST00000564370.5:c.308+4G>C (STUB1) ENSP00000456875.1:n.308+4G>C
ENST00000565677.5:c.308+4G>C (STUB1) ENSP00000457228.1:n.308+4G>C
ENST00000566181.2:n.293+4G>C (STUB1)
ENST00000566408.5:c.241+4G>C (STUB1)
ENST00000567173.5:c.467+4G>C (STUB1) ENSP00000456591.1:n.467+4G>C
ENST00000569248.5:n.1098+4G>C (STUB1)
ENST00000620831.4:c.-50+38304G>C (MSLN) ENSP00000482893.1:n.-50+38304G>C
NM_001293197.1:c.308+4G>C (STUB1) NP_001280126.1:n.308+4G>C
NM_005861.3:c.524+4G>C (STUB1) NP_005852.2:n.524+4G>C
NM_005861.4:c.524+4G>C (STUB1) MANE Select NP_005852.2:n.524+4G>C
NM_001293197.2:c.308+4G>C (STUB1) NP_001280126.1:n.308+4G>C