Canonical Allele Identifier: CA354144057

Gene: ILDR1

Linked Data

• ClinVar Variation Id: 451344
• ClinVar RCV Id: RCV000520819
• dbSNP Id: rs1297610101
• gnomAD v2: 3-121712565-C-T
• gnomAD v4: 3-121993718-C-T
• MyVariant Identifiers: chr3:g.121712565C>T (hg19) ; chr3:g.121993718C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993718C>T , CM000665.2:g.121993718C>T	GRCh38
NC_000003.11:g.121712565C>T , CM000665.1:g.121712565C>T	GRCh37
NC_000003.10:g.123195255C>T	NCBI36
NG_031870.1:g.33563G>A
NG_031870.2:g.71837G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1031G>A MANE Select	ENSP00000345667.5:p.Arg344Lys
ENST00000460554.2:n.981G>A
ENST00000642615.1:c.*214G>A	ENSP00000495499.1:n.*214G>A
ENST00000273691.7:c.899G>A	ENSP00000273691.3:p.Arg300Lys
ENST00000344209.9:c.1031G>A	ENSP00000345667.5:p.Arg344Lys
ENST00000393631.5:c.764G>A	ENSP00000377251.1:p.Arg255Lys
ENST00000460554.1:n.1133G>A
ENST00000462014.1:c.935G>A	ENSP00000419414.1:p.Arg312Lys
NM_001199799.1:c.1031G>A	NP_001186728.1:p.Arg344Lys
NM_001199800.1:c.764G>A	NP_001186729.1:p.Arg255Lys
NM_175924.3:c.899G>A	NP_787120.1:p.Arg300Lys
XM_005247389.3:c.935G>A	XP_005247446.1:p.Arg312Lys
XM_011512738.1:c.1031G>A	XP_011511040.1:p.Arg344Lys
XM_011512739.1:c.494G>A	XP_011511041.1:p.Arg165Lys
XM_005247389.4:c.935G>A	XP_005247446.1:p.Arg312Lys
XM_011512738.2:c.1031G>A	XP_011511040.1:p.Arg344Lys
XM_011512739.2:c.494G>A	XP_011511041.1:p.Arg165Lys
NM_001199799.2:c.1031G>A MANE Select	NP_001186728.1:p.Arg344Lys
NM_001199800.2:c.764G>A	NP_001186729.1:p.Arg255Lys
NM_175924.4:c.899G>A	NP_787120.1:p.Arg300Lys