Canonical Allele Identifier: CA338249686

Gene: PADI4

Linked Data

• dbSNP Id: rs1366193159
• gnomAD v2: 1-17674523-T-C
• gnomAD v4: 1-17348028-T-C
• MyVariant Identifiers: chr1:g.17674523T>C (hg19) ; chr1:g.17348028T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17348028T>C , CM000663.2:g.17348028T>C	GRCh38
NC_000001.10:g.17674523T>C , CM000663.1:g.17674523T>C	GRCh37
NC_000001.9:g.17547110T>C	NCBI36
NG_023261.2:g.44839T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375448.4:c.1135T>C MANE Select	ENSP00000364597.4:p.Phe379Leu
ENST00000468945.1:n.194T>C
ENST00000487048.5:n.102T>C
NM_012387.2:c.1135T>C	NP_036519.2:p.Phe379Leu
XM_011541150.1:c.949T>C	XP_011539452.1:p.Phe317Leu
XM_011541151.1:c.1135T>C	XP_011539453.1:p.Phe379Leu
XM_011541152.1:c.598T>C	XP_011539454.1:p.Phe200Leu
XM_011541153.1:c.1135T>C	XP_011539455.1:p.Phe379Leu
XM_011541154.1:c.1135T>C	XP_011539456.1:p.Phe379Leu
XM_011541155.1:c.1135T>C	XP_011539457.1:p.Phe379Leu
XM_011541156.1:c.1135T>C	XP_011539458.1:p.Phe379Leu
XM_011541157.1:c.244T>C	XP_011539459.1:p.Phe82Leu
XM_011541154.2:c.1135T>C	XP_011539456.1:p.Phe379Leu
NM_012387.3:c.1135T>C MANE Select	NP_036519.2:p.Phe379Leu