Canonical Allele Identifier: CA2568641

Gene: ILDR1

Linked Data

• ClinVar Variation Id: 1521220
• ClinVar RCV Id: RCV002031156
• dbSNP Id: rs200077106
• ExAC: 3:121712080 C / T
• gnomAD v2: 3-121712080-C-T
• gnomAD v3: 3-121993233-C-T
• gnomAD v4: 3-121993233-C-T
• MyVariant Identifiers: chr3:g.121712080C>T (hg19) ; chr3:g.121993233C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993233C>T , CM000665.2:g.121993233C>T	GRCh38
NC_000003.11:g.121712080C>T , CM000665.1:g.121712080C>T	GRCh37
NC_000003.10:g.123194770C>T	NCBI36
NG_031870.1:g.34048G>A
NG_031870.2:g.72322G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1516G>A MANE Select	ENSP00000345667.5:p.Glu506Lys
ENST00000460554.2:n.1466G>A
ENST00000642615.1:c.*699G>A	ENSP00000495499.1:n.*699G>A
ENST00000273691.7:c.1384G>A	ENSP00000273691.3:p.Glu462Lys
ENST00000344209.9:c.1516G>A	ENSP00000345667.5:p.Glu506Lys
ENST00000393631.5:c.1249G>A	ENSP00000377251.1:p.Glu417Lys
ENST00000460554.1:n.1618G>A
ENST00000462014.1:c.1420G>A	ENSP00000419414.1:p.Glu474Lys
NM_001199799.1:c.1516G>A	NP_001186728.1:p.Glu506Lys
NM_001199800.1:c.1249G>A	NP_001186729.1:p.Glu417Lys
NM_175924.3:c.1384G>A	NP_787120.1:p.Glu462Lys
XM_005247389.3:c.1420G>A	XP_005247446.1:p.Glu474Lys
XM_011512738.1:c.1516G>A	XP_011511040.1:p.Glu506Lys
XM_011512739.1:c.979G>A	XP_011511041.1:p.Glu327Lys
XM_005247389.4:c.1420G>A	XP_005247446.1:p.Glu474Lys
XM_011512738.2:c.1516G>A	XP_011511040.1:p.Glu506Lys
XM_011512739.2:c.979G>A	XP_011511041.1:p.Glu327Lys
NM_001199799.2:c.1516G>A MANE Select	NP_001186728.1:p.Glu506Lys
NM_001199800.2:c.1249G>A	NP_001186729.1:p.Glu417Lys
NM_175924.4:c.1384G>A	NP_787120.1:p.Glu462Lys