Canonical Allele Identifier: CA1111776249
Gene: PEBP4 HGNC NCBI

Linked Data

dbSNP Id: rs1806021883
gnomAD v3: 8-22786115-G-T
gnomAD v4: 8-22786115-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.22786115G>T , CM000670.2:g.22786115G>T GRCh38
NC_000008.10:g.22643628G>T , CM000670.1:g.22643628G>T GRCh37
NC_000008.9:g.22699573G>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000256404.8:c.357+31522C>A MANE Select ENSP00000256404.6:n.357+31522C>A
ENST00000256404.7:c.357+31522C>A ENSP00000256404.6:n.357+31522C>A
NM_144962.2:c.357+31522C>A NP_659399.2:n.357+31522C>A
XM_011544413.1:c.357+31522C>A XP_011542715.1:n.357+31522C>A
XM_011544414.1:c.357+31522C>A XP_011542716.1:n.357+31522C>A
NM_001363233.1:c.357+31522C>A NP_001350162.1:n.357+31522C>A
NM_144962.3:c.357+31522C>A MANE Select NP_659399.2:n.357+31522C>A
NM_001363233.2:c.357+31522C>A NP_001350162.1:n.357+31522C>A