Canonical Allele Identifier: CA640795

Gene: PADI4

Linked Data

• dbSNP Id: rs371057250
• ExAC: 1:17674547 C / A
• gnomAD v2: 1-17674547-C-A
• gnomAD v3: 1-17348052-C-A
• gnomAD v4: 1-17348052-C-A
• MyVariant Identifiers: chr1:g.17674547C>A (hg19) ; chr1:g.17348052C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17348052C>A , CM000663.2:g.17348052C>A	GRCh38
NC_000001.10:g.17674547C>A , CM000663.1:g.17674547C>A	GRCh37
NC_000001.9:g.17547134C>A	NCBI36
NG_023261.2:g.44863C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375448.4:c.1155+4C>A MANE Select	ENSP00000364597.4:n.1155+4C>A
ENST00000468945.1:n.218C>A
ENST00000487048.5:n.122+4C>A
NM_012387.2:c.1155+4C>A	NP_036519.2:n.1155+4C>A
XM_011541150.1:c.969+4C>A	XP_011539452.1:n.969+4C>A
XM_011541151.1:c.1155+4C>A	XP_011539453.1:n.1155+4C>A
XM_011541152.1:c.618+4C>A	XP_011539454.1:n.618+4C>A
XM_011541153.1:c.1155+4C>A	XP_011539455.1:n.1155+4C>A
XM_011541154.1:c.1155+4C>A	XP_011539456.1:n.1155+4C>A
XM_011541155.1:c.1155+4C>A	XP_011539457.1:n.1155+4C>A
XM_011541156.1:c.1155+4C>A	XP_011539458.1:n.1155+4C>A
XM_011541157.1:c.264+4C>A	XP_011539459.1:n.264+4C>A
XM_011541154.2:c.1155+4C>A	XP_011539456.1:n.1155+4C>A
NM_012387.3:c.1155+4C>A MANE Select	NP_036519.2:n.1155+4C>A