Canonical Allele Identifier: CA338249532

Gene: PADI4

Linked Data

• gnomAD v4: 1-17347965-C-T
• MyVariant Identifiers: chr1:g.17674460C>T (hg19) ; chr1:g.17347965C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17347965C>T , CM000663.2:g.17347965C>T	GRCh38
NC_000001.10:g.17674460C>T , CM000663.1:g.17674460C>T	GRCh37
NC_000001.9:g.17547047C>T	NCBI36
NG_023261.2:g.44776C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375448.4:c.1072C>T MANE Select	ENSP00000364597.4:p.Gln358Ter
ENST00000468945.1:n.131C>T
ENST00000487048.5:n.39C>T
NM_012387.2:c.1072C>T	NP_036519.2:p.Gln358Ter
XM_011541150.1:c.886C>T	XP_011539452.1:p.Gln296Ter
XM_011541151.1:c.1072C>T	XP_011539453.1:p.Gln358Ter
XM_011541152.1:c.535C>T	XP_011539454.1:p.Gln179Ter
XM_011541153.1:c.1072C>T	XP_011539455.1:p.Gln358Ter
XM_011541154.1:c.1072C>T	XP_011539456.1:p.Gln358Ter
XM_011541155.1:c.1072C>T	XP_011539457.1:p.Gln358Ter
XM_011541156.1:c.1072C>T	XP_011539458.1:p.Gln358Ter
XM_011541157.1:c.181C>T	XP_011539459.1:p.Gln61Ter
XM_011541154.2:c.1072C>T	XP_011539456.1:p.Gln358Ter
NM_012387.3:c.1072C>T MANE Select	NP_036519.2:p.Gln358Ter