Canonical Allele Identifier: CA435423852

Gene: ILDR1

Linked Data

• gnomAD v4: 3-121993579-C-T
• COSMIC: COSM3586132 ; COSM3586133 ; COSM3586134
• MyVariant Identifiers: chr3:g.121712426C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993579C>T , CM000665.2:g.121993579C>T	GRCh38
NC_000003.11:g.121712426C>T , CM000665.1:g.121712426C>T	GRCh37
NC_000003.10:g.123195116C>T	NCBI36
NG_031870.1:g.33702G>A
NG_031870.2:g.71976G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1170G>A MANE Select	ENSP00000345667.5:p.Leu390=
ENST00000460554.2:n.1120G>A
ENST00000642615.1:c.*353G>A	ENSP00000495499.1:n.*353G>A
ENST00000273691.7:c.1038G>A	ENSP00000273691.3:p.Leu346=
ENST00000344209.9:c.1170G>A	ENSP00000345667.5:p.Leu390=
ENST00000393631.5:c.903G>A	ENSP00000377251.1:p.Leu301=
ENST00000460554.1:n.1272G>A
ENST00000462014.1:c.1074G>A	ENSP00000419414.1:p.Leu358=
NM_001199799.1:c.1170G>A	NP_001186728.1:p.Leu390=
NM_001199800.1:c.903G>A	NP_001186729.1:p.Leu301=
NM_175924.3:c.1038G>A	NP_787120.1:p.Leu346=
XM_005247389.3:c.1074G>A	XP_005247446.1:p.Leu358=
XM_011512738.1:c.1170G>A	XP_011511040.1:p.Leu390=
XM_011512739.1:c.633G>A	XP_011511041.1:p.Leu211=
XM_005247389.4:c.1074G>A	XP_005247446.1:p.Leu358=
XM_011512738.2:c.1170G>A	XP_011511040.1:p.Leu390=
XM_011512739.2:c.633G>A	XP_011511041.1:p.Leu211=
NM_001199799.2:c.1170G>A MANE Select	NP_001186728.1:p.Leu390=
NM_001199800.2:c.903G>A	NP_001186729.1:p.Leu301=
NM_175924.4:c.1038G>A	NP_787120.1:p.Leu346=