Canonical Allele Identifier: CA580789275

Gene: PEBP4

Linked Data

• dbSNP Id: rs1193880568
• gnomAD v2: 8-22643626-C-T
• gnomAD v3: 8-22786113-C-T
• gnomAD v4: 8-22786113-C-T
• MyVariant Identifiers: chr8:g.22643626C>T (hg19) ; chr8:g.22786113C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22786113C>T , CM000670.2:g.22786113C>T	GRCh38
NC_000008.10:g.22643626C>T , CM000670.1:g.22643626C>T	GRCh37
NC_000008.9:g.22699571C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000256404.8:c.357+31524G>A MANE Select	ENSP00000256404.6:n.357+31524G>A
ENST00000256404.7:c.357+31524G>A	ENSP00000256404.6:n.357+31524G>A
NM_144962.2:c.357+31524G>A	NP_659399.2:n.357+31524G>A
XM_011544413.1:c.357+31524G>A	XP_011542715.1:n.357+31524G>A
XM_011544414.1:c.357+31524G>A	XP_011542716.1:n.357+31524G>A
NM_001363233.1:c.357+31524G>A	NP_001350162.1:n.357+31524G>A
NM_144962.3:c.357+31524G>A MANE Select	NP_659399.2:n.357+31524G>A
NM_001363233.2:c.357+31524G>A	NP_001350162.1:n.357+31524G>A