Canonical Allele Identifier: CA521046294

Gene: PADI4

Linked Data

• dbSNP Id: rs1175993877
• gnomAD v2: 1-17672640-T-C
• gnomAD v4: 1-17346145-T-C
• MyVariant Identifiers: chr1:g.17672640T>C (hg19) ; chr1:g.17346145T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17346145T>C , CM000663.2:g.17346145T>C	GRCh38
NC_000001.10:g.17672640T>C , CM000663.1:g.17672640T>C	GRCh37
NC_000001.9:g.17545227T>C	NCBI36
NG_023261.2:g.42956T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375448.4:c.1047+6T>C MANE Select	ENSP00000364597.4:n.1047+6T>C
ENST00000468945.1:n.106+6T>C
NM_012387.2:c.1047+6T>C	NP_036519.2:n.1047+6T>C
XM_011541150.1:c.861+6T>C	XP_011539452.1:n.861+6T>C
XM_011541151.1:c.1047+6T>C	XP_011539453.1:n.1047+6T>C
XM_011541152.1:c.510+6T>C	XP_011539454.1:n.510+6T>C
XM_011541153.1:c.1047+6T>C	XP_011539455.1:n.1047+6T>C
XM_011541154.1:c.1047+6T>C	XP_011539456.1:n.1047+6T>C
XM_011541155.1:c.1047+6T>C	XP_011539457.1:n.1047+6T>C
XM_011541156.1:c.1047+6T>C	XP_011539458.1:n.1047+6T>C
XM_011541157.1:c.156+6T>C	XP_011539459.1:n.156+6T>C
XM_011541154.2:c.1047+6T>C	XP_011539456.1:n.1047+6T>C
NM_012387.3:c.1047+6T>C MANE Select	NP_036519.2:n.1047+6T>C