Canonical Allele Identifier: CA106325730
Gene: PABPC4L HGNC NCBI

Linked Data

ClinVar Variation Id: 3207846
ClinVar RCV Id: RCV004497688
dbSNP Id: rs775758642
gnomAD v2: 4-135121468-C-G
gnomAD v3: 4-134200313-C-G
gnomAD v4: 4-134200313-C-G
MyVariant Identifiers: chr4:g.135121468C>G (hg19) chr4:g.134200313C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.134200313C>G , CM000666.2:g.134200313C>G GRCh38
NC_000004.11:g.135121468C>G , CM000666.1:g.135121468C>G GRCh37
NC_000004.10:g.135340918C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000421491.4:c.707G>C MANE Select ENSP00000463233.1:p.Ser236Thr
ENST00000421491.3:c.707G>C ENSP00000463233.1:p.Ser236Thr
NM_001114734.1:c.881G>C NP_001108206.2:p.Ser294Thr
NM_001114734.2:c.707G>C MANE Select NP_001108206.3:p.Ser236Thr
NM_001363585.1:c.707G>C NP_001350514.1:p.Ser236Thr
XR_001741133.1:n.1246G>C
XR_001741134.1:n.1246G>C
XR_001741135.1:n.1246G>C
XR_001741136.1:n.1246G>C
XR_001741137.1:n.1246G>C
XR_001741138.1:n.1246G>C
XR_001741139.1:n.1241G>C
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