Canonical Allele Identifier: CA435423741

Gene: ILDR1

Linked Data

• ClinVar Variation Id: 505235
• ClinVar RCV Id: RCV000614510
• dbSNP Id: rs1183661317
• gnomAD v2: 3-121712171-G-T
• gnomAD v4: 3-121993324-G-T
• MyVariant Identifiers: chr3:g.121712171G>T (hg19) ; chr3:g.121993324G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993324G>T , CM000665.2:g.121993324G>T	GRCh38
NC_000003.11:g.121712171G>T , CM000665.1:g.121712171G>T	GRCh37
NC_000003.10:g.123194861G>T	NCBI36
NG_031870.1:g.33957C>A
NG_031870.2:g.72231C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1425C>A MANE Select	ENSP00000345667.5:p.Gly475=
ENST00000460554.2:n.1375C>A
ENST00000642615.1:c.*608C>A	ENSP00000495499.1:n.*608C>A
ENST00000273691.7:c.1293C>A	ENSP00000273691.3:p.Gly431=
ENST00000344209.9:c.1425C>A	ENSP00000345667.5:p.Gly475=
ENST00000393631.5:c.1158C>A	ENSP00000377251.1:p.Gly386=
ENST00000460554.1:n.1527C>A
ENST00000462014.1:c.1329C>A	ENSP00000419414.1:p.Gly443=
NM_001199799.1:c.1425C>A	NP_001186728.1:p.Gly475=
NM_001199800.1:c.1158C>A	NP_001186729.1:p.Gly386=
NM_175924.3:c.1293C>A	NP_787120.1:p.Gly431=
XM_005247389.3:c.1329C>A	XP_005247446.1:p.Gly443=
XM_011512738.1:c.1425C>A	XP_011511040.1:p.Gly475=
XM_011512739.1:c.888C>A	XP_011511041.1:p.Gly296=
XM_005247389.4:c.1329C>A	XP_005247446.1:p.Gly443=
XM_011512738.2:c.1425C>A	XP_011511040.1:p.Gly475=
XM_011512739.2:c.888C>A	XP_011511041.1:p.Gly296=
NM_001199799.2:c.1425C>A MANE Select	NP_001186728.1:p.Gly475=
NM_001199800.2:c.1158C>A	NP_001186729.1:p.Gly386=
NM_175924.4:c.1293C>A	NP_787120.1:p.Gly431=