Canonical Allele Identifier: CA247265650

Gene: PDX1

Linked Data

• ClinVar Variation Id: 449080
• ClinVar RCV Id: RCV000712003 ; RCV001821454 ; RCV002490898
• dbSNP Id: rs930365498
• gnomAD v2: 13-28498806-G-T
• gnomAD v3: 13-27924669-G-T
• gnomAD v4: 13-27924669-G-T
• MyVariant Identifiers: chr13:g.28498806G>T (hg19) ; chr13:g.27924669G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.27924669G>T , CM000675.2:g.27924669G>T	GRCh38
NC_000013.10:g.28498806G>T , CM000675.1:g.28498806G>T	GRCh37
NC_000013.9:g.27396806G>T	NCBI36
NG_008183.1:g.9639G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381033.5:c.820G>T MANE Select	ENSP00000370421.4:p.Val274Phe
ENST00000381033.4:c.820G>T	ENSP00000370421.4:p.Val274Phe
NM_000209.3:c.820G>T	NP_000200.1:p.Val274Phe
NM_000209.4:c.820G>T MANE Select	NP_000200.1:p.Val274Phe