Canonical Allele Identifier: CA640787

Gene: PADI4

Linked Data

• ClinVar Variation Id: 2545991
• ClinVar RCV Id: RCV004321022
• dbSNP Id: rs765542991
• ExAC: 1:17674527 C / G
• gnomAD v2: 1-17674527-C-G
• gnomAD v4: 1-17348032-C-G
• MyVariant Identifiers: chr1:g.17674527C>G (hg19) ; chr1:g.17348032C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17348032C>G , CM000663.2:g.17348032C>G	GRCh38
NC_000001.10:g.17674527C>G , CM000663.1:g.17674527C>G	GRCh37
NC_000001.9:g.17547114C>G	NCBI36
NG_023261.2:g.44843C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375448.4:c.1139C>G MANE Select	ENSP00000364597.4:p.Pro380Arg
ENST00000468945.1:n.198C>G
ENST00000487048.5:n.106C>G
NM_012387.2:c.1139C>G	NP_036519.2:p.Pro380Arg
XM_011541150.1:c.953C>G	XP_011539452.1:p.Pro318Arg
XM_011541151.1:c.1139C>G	XP_011539453.1:p.Pro380Arg
XM_011541152.1:c.602C>G	XP_011539454.1:p.Pro201Arg
XM_011541153.1:c.1139C>G	XP_011539455.1:p.Pro380Arg
XM_011541154.1:c.1139C>G	XP_011539456.1:p.Pro380Arg
XM_011541155.1:c.1139C>G	XP_011539457.1:p.Pro380Arg
XM_011541156.1:c.1139C>G	XP_011539458.1:p.Pro380Arg
XM_011541157.1:c.248C>G	XP_011539459.1:p.Pro83Arg
XM_011541154.2:c.1139C>G	XP_011539456.1:p.Pro380Arg
NM_012387.3:c.1139C>G MANE Select	NP_036519.2:p.Pro380Arg