Canonical Allele Identifier: CA18639090

Gene: PADI4

Linked Data

• dbSNP Id: rs993490323
• gnomAD v2: 1-17662667-C-G
• gnomAD v4: 1-17336172-C-G
• MyVariant Identifiers: chr1:g.17662667C>G (hg19) ; chr1:g.17336172C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17336172C>G , CM000663.2:g.17336172C>G	GRCh38
NC_000001.10:g.17662667C>G , CM000663.1:g.17662667C>G	GRCh37
NC_000001.9:g.17535254C>G	NCBI36
NG_023261.2:g.32983C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375448.4:c.354C>G MANE Select	ENSP00000364597.4:p.Cys118Trp
NM_012387.2:c.354C>G	NP_036519.2:p.Cys118Trp
XM_011541150.1:c.340+2163C>G	XP_011539452.1:n.340+2163C>G
XM_011541151.1:c.354C>G	XP_011539453.1:p.Cys118Trp
XM_011541152.1:c.-66C>G	XP_011539454.1:n.-66C>G
XM_011541153.1:c.354C>G	XP_011539455.1:p.Cys118Trp
XM_011541154.1:c.354C>G	XP_011539456.1:p.Cys118Trp
XM_011541155.1:c.354C>G	XP_011539457.1:p.Cys118Trp
XM_011541156.1:c.354C>G	XP_011539458.1:p.Cys118Trp
XM_011541157.1:c.-359C>G	XP_011539459.1:n.-359C>G
XM_011541154.2:c.354C>G	XP_011539456.1:p.Cys118Trp
NM_012387.3:c.354C>G MANE Select	NP_036519.2:p.Cys118Trp