Canonical Allele Identifier: CA640471

Gene: PADI4

Linked Data

• ClinVar Variation Id: 590790
• ClinVar RCV Id: RCV000721936
• dbSNP Id: rs2240340
• ExAC: 1:17662639 T / C
• gnomAD v2: 1-17662639-T-C
• gnomAD v3: 1-17336144-T-C
• gnomAD v4: 1-17336144-T-C
• MyVariant Identifiers: chr1:g.17662639T>C (hg19) ; chr1:g.17336144T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17336144T>C , CM000663.2:g.17336144T>C	GRCh38
NC_000001.10:g.17662639T>C , CM000663.1:g.17662639T>C	GRCh37
NC_000001.9:g.17535226T>C	NCBI36
NG_023261.2:g.32955T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000375448.4:c.341-15T>C MANE Select	ENSP00000364597.4:n.341-15T>C
NM_012387.2:c.341-15T>C	NP_036519.2:n.341-15T>C
XM_011541150.1:c.340+2135T>C	XP_011539452.1:n.340+2135T>C
XM_011541151.1:c.341-15T>C	XP_011539453.1:n.341-15T>C
XM_011541152.1:c.-79-15T>C	XP_011539454.1:n.-79-15T>C
XM_011541153.1:c.341-15T>C	XP_011539455.1:n.341-15T>C
XM_011541154.1:c.341-15T>C	XP_011539456.1:n.341-15T>C
XM_011541155.1:c.341-15T>C	XP_011539457.1:n.341-15T>C
XM_011541156.1:c.341-15T>C	XP_011539458.1:n.341-15T>C
XM_011541157.1:c.-372-15T>C	XP_011539459.1:n.-372-15T>C
XM_011541154.2:c.341-15T>C	XP_011539456.1:n.341-15T>C
NM_012387.3:c.341-15T>C MANE Select	NP_036519.2:n.341-15T>C