Canonical Allele Identifier: CA640408
Gene: PADI4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2366017
ClinVar RCV Id: RCV004202388
dbSNP Id: rs138247576
ExAC: 1:17660474 G / A
gnomAD v2: 1-17660474-G-A
gnomAD v3: 1-17333979-G-A
gnomAD v4: 1-17333979-G-A
MyVariant Identifiers: chr1:g.17660474G>A (hg19) chr1:g.17333979G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17333979G>A , CM000663.2:g.17333979G>A GRCh38
NC_000001.10:g.17660474G>A , CM000663.1:g.17660474G>A GRCh37
NC_000001.9:g.17533061G>A NCBI36
NG_023261.2:g.30790G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375448.4:c.310G>A MANE Select ENSP00000364597.4:p.Val104Ile
ENST00000375453.5:c.310G>A ENSP00000364602.1:p.Val104Ile
NM_012387.2:c.310G>A NP_036519.2:p.Val104Ile
XM_011541150.1:c.310G>A XP_011539452.1:p.Val104Ile
XM_011541151.1:c.310G>A XP_011539453.1:p.Val104Ile
XM_011541153.1:c.310G>A XP_011539455.1:p.Val104Ile
XM_011541154.1:c.310G>A XP_011539456.1:p.Val104Ile
XM_011541155.1:c.310G>A XP_011539457.1:p.Val104Ile
XM_011541156.1:c.310G>A XP_011539458.1:p.Val104Ile
XM_011541154.2:c.310G>A XP_011539456.1:p.Val104Ile
NM_012387.3:c.310G>A MANE Select NP_036519.2:p.Val104Ile
Search 100 bp 5'
Search 100 bp 3'