Canonical Allele Identifier: CA1111776251
Gene: PEBP4 HGNC NCBI

Linked Data

dbSNP Id: rs1806022119
gnomAD v3: 8-22786125-T-C
gnomAD v4: 8-22786125-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.22786125T>C , CM000670.2:g.22786125T>C GRCh38
NC_000008.10:g.22643638T>C , CM000670.1:g.22643638T>C GRCh37
NC_000008.9:g.22699583T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000256404.8:c.357+31512A>G MANE Select ENSP00000256404.6:n.357+31512A>G
ENST00000256404.7:c.357+31512A>G ENSP00000256404.6:n.357+31512A>G
NM_144962.2:c.357+31512A>G NP_659399.2:n.357+31512A>G
XM_011544413.1:c.357+31512A>G XP_011542715.1:n.357+31512A>G
XM_011544414.1:c.357+31512A>G XP_011542716.1:n.357+31512A>G
NM_001363233.1:c.357+31512A>G NP_001350162.1:n.357+31512A>G
NM_144962.3:c.357+31512A>G MANE Select NP_659399.2:n.357+31512A>G
NM_001363233.2:c.357+31512A>G NP_001350162.1:n.357+31512A>G