Canonical Allele Identifier: CA2868287

Gene: QDPR

Linked Data

• ClinVar Variation Id: 348163
• ClinVar RCV Id: RCV000331176 ; RCV001683387 ; RCV001795966
• dbSNP Id: rs2244788
• ExAC: 4:17513724 G / C
• gnomAD v2: 4-17513724-G-C
• gnomAD v3: 4-17512101-G-C
• gnomAD v4: 4-17512101-G-C
• MyVariant Identifiers: chr4:g.17513724G>C (hg19) ; chr4:g.17512101G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.17512101G>C , CM000666.2:g.17512101G>C	GRCh38
NC_000004.11:g.17513724G>C , CM000666.1:g.17513724G>C	GRCh37
NC_000004.10:g.17122822G>C	NCBI36
NG_008763.1:g.5134C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281243.9:c.-47C>G	ENSP00000281243.5:n.-47C>G
ENST00000514300.1:c.-47C>G	ENSP00000426039.1:n.-47C>G
NM_000320.2:c.-47C>G	NP_000311.2:n.-47C>G
NM_001306140.1:c.-47C>G	NP_001293069.1:n.-47C>G
XR_241677.1:n.117C>G
NR_156494.1:n.134C>G