Canonical Allele Identifier: CA354143821

Gene: ILDR1

Linked Data

• dbSNP Id: rs387907015
• gnomAD v3: 3-121993614-C-T
• gnomAD v4: 3-121993614-C-T
• COSMIC: COSM3586135 ; COSM3586136 ; COSM3586137
• MyVariant Identifiers: chr3:g.121712461C>T (hg19) ; chr3:g.121993614C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993614C>T , CM000665.2:g.121993614C>T	GRCh38
NC_000003.11:g.121712461C>T , CM000665.1:g.121712461C>T	GRCh37
NC_000003.10:g.123195151C>T	NCBI36
NG_031870.1:g.33667G>A
NG_031870.2:g.71941G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1135G>A MANE Select	ENSP00000345667.5:p.Glu379Lys
ENST00000460554.2:n.1085G>A
ENST00000642615.1:c.*318G>A	ENSP00000495499.1:n.*318G>A
ENST00000273691.7:c.1003G>A	ENSP00000273691.3:p.Glu335Lys
ENST00000344209.9:c.1135G>A	ENSP00000345667.5:p.Glu379Lys
ENST00000393631.5:c.868G>A	ENSP00000377251.1:p.Glu290Lys
ENST00000460554.1:n.1237G>A
ENST00000462014.1:c.1039G>A	ENSP00000419414.1:p.Glu347Lys
NM_001199799.1:c.1135G>A	NP_001186728.1:p.Glu379Lys
NM_001199800.1:c.868G>A	NP_001186729.1:p.Glu290Lys
NM_175924.3:c.1003G>A	NP_787120.1:p.Glu335Lys
XM_005247389.3:c.1039G>A	XP_005247446.1:p.Glu347Lys
XM_011512738.1:c.1135G>A	XP_011511040.1:p.Glu379Lys
XM_011512739.1:c.598G>A	XP_011511041.1:p.Glu200Lys
XM_005247389.4:c.1039G>A	XP_005247446.1:p.Glu347Lys
XM_011512738.2:c.1135G>A	XP_011511040.1:p.Glu379Lys
XM_011512739.2:c.598G>A	XP_011511041.1:p.Glu200Lys
NM_001199799.2:c.1135G>A MANE Select	NP_001186728.1:p.Glu379Lys
NM_001199800.2:c.868G>A	NP_001186729.1:p.Glu290Lys
NM_175924.4:c.1003G>A	NP_787120.1:p.Glu335Lys