Canonical Allele Identifier: CA338249715

Gene: PADI4

Linked Data

• ClinVar Variation Id: 3207972
• ClinVar RCV Id: RCV004497814
• dbSNP Id: rs1220280898
• gnomAD v2: 1-17674536-G-A
• gnomAD v3: 1-17348041-G-A
• gnomAD v4: 1-17348041-G-A
• MyVariant Identifiers: chr1:g.17674536G>A (hg19) ; chr1:g.17348041G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17348041G>A , CM000663.2:g.17348041G>A	GRCh38
NC_000001.10:g.17674536G>A , CM000663.1:g.17674536G>A	GRCh37
NC_000001.9:g.17547123G>A	NCBI36
NG_023261.2:g.44852G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375448.4:c.1148G>A MANE Select	ENSP00000364597.4:p.Arg383His
ENST00000468945.1:n.207G>A
ENST00000487048.5:n.115G>A
NM_012387.2:c.1148G>A	NP_036519.2:p.Arg383His
XM_011541150.1:c.962G>A	XP_011539452.1:p.Arg321His
XM_011541151.1:c.1148G>A	XP_011539453.1:p.Arg383His
XM_011541152.1:c.611G>A	XP_011539454.1:p.Arg204His
XM_011541153.1:c.1148G>A	XP_011539455.1:p.Arg383His
XM_011541154.1:c.1148G>A	XP_011539456.1:p.Arg383His
XM_011541155.1:c.1148G>A	XP_011539457.1:p.Arg383His
XM_011541156.1:c.1148G>A	XP_011539458.1:p.Arg383His
XM_011541157.1:c.257G>A	XP_011539459.1:p.Arg86His
XM_011541154.2:c.1148G>A	XP_011539456.1:p.Arg383His
NM_012387.3:c.1148G>A MANE Select	NP_036519.2:p.Arg383His