Canonical Allele Identifier: CA1111776247

Gene: PEBP4

Linked Data

• dbSNP Id: rs1806021673
• gnomAD v3: 8-22786105-C-A
• gnomAD v4: 8-22786105-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22786105C>A , CM000670.2:g.22786105C>A	GRCh38
NC_000008.10:g.22643618C>A , CM000670.1:g.22643618C>A	GRCh37
NC_000008.9:g.22699563C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000256404.8:c.357+31532G>T MANE Select	ENSP00000256404.6:n.357+31532G>T
ENST00000256404.7:c.357+31532G>T	ENSP00000256404.6:n.357+31532G>T
NM_144962.2:c.357+31532G>T	NP_659399.2:n.357+31532G>T
XM_011544413.1:c.357+31532G>T	XP_011542715.1:n.357+31532G>T
XM_011544414.1:c.357+31532G>T	XP_011542716.1:n.357+31532G>T
NM_001363233.1:c.357+31532G>T	NP_001350162.1:n.357+31532G>T
NM_144962.3:c.357+31532G>T MANE Select	NP_659399.2:n.357+31532G>T
NM_001363233.2:c.357+31532G>T	NP_001350162.1:n.357+31532G>T