Canonical Allele Identifier: CA338249496

Gene: PADI4

Linked Data

• dbSNP Id: rs767002818
• gnomAD v4: 1-17347955-C-G
• MyVariant Identifiers: chr1:g.17674450C>G (hg19) ; chr1:g.17347955C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17347955C>G , CM000663.2:g.17347955C>G	GRCh38
NC_000001.10:g.17674450C>G , CM000663.1:g.17674450C>G	GRCh37
NC_000001.9:g.17547037C>G	NCBI36
NG_023261.2:g.44766C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375448.4:c.1062C>G MANE Select	ENSP00000364597.4:p.Ile354Met
ENST00000468945.1:n.121C>G
ENST00000487048.5:n.29C>G
NM_012387.2:c.1062C>G	NP_036519.2:p.Ile354Met
XM_011541150.1:c.876C>G	XP_011539452.1:p.Ile292Met
XM_011541151.1:c.1062C>G	XP_011539453.1:p.Ile354Met
XM_011541152.1:c.525C>G	XP_011539454.1:p.Ile175Met
XM_011541153.1:c.1062C>G	XP_011539455.1:p.Ile354Met
XM_011541154.1:c.1062C>G	XP_011539456.1:p.Ile354Met
XM_011541155.1:c.1062C>G	XP_011539457.1:p.Ile354Met
XM_011541156.1:c.1062C>G	XP_011539458.1:p.Ile354Met
XM_011541157.1:c.171C>G	XP_011539459.1:p.Ile57Met
XM_011541154.2:c.1062C>G	XP_011539456.1:p.Ile354Met
NM_012387.3:c.1062C>G MANE Select	NP_036519.2:p.Ile354Met