Canonical Allele Identifier: CA640894

Gene: PADI4

Linked Data

• dbSNP Id: rs760586998
• ExAC: 1:17682664 C / T
• gnomAD v2: 1-17682664-C-T
• gnomAD v4: 1-17356169-C-T
• MyVariant Identifiers: chr1:g.17682664C>T (hg19) ; chr1:g.17356169C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17356169C>T , CM000663.2:g.17356169C>T	GRCh38
NC_000001.10:g.17682664C>T , CM000663.1:g.17682664C>T	GRCh37
NC_000001.9:g.17555251C>T	NCBI36
NG_023261.2:g.52980C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000375448.4:c.1455+42C>T MANE Select	ENSP00000364597.4:n.1455+42C>T
ENST00000467001.1:n.356+42C>T
ENST00000487048.5:n.422+42C>T
NM_012387.2:c.1455+42C>T	NP_036519.2:n.1455+42C>T
XM_011541150.1:c.1269+42C>T	XP_011539452.1:n.1269+42C>T
XM_011541151.1:c.1156-188C>T	XP_011539453.1:n.1156-188C>T
XM_011541152.1:c.918+42C>T	XP_011539454.1:n.918+42C>T
XM_011541157.1:c.564+42C>T	XP_011539459.1:n.564+42C>T
NM_012387.3:c.1455+42C>T MANE Select	NP_036519.2:n.1455+42C>T