Canonical Allele Identifier: CA435423903

Gene: ILDR1

Linked Data

• gnomAD v4: 3-121993696-C-T
• COSMIC: COSM5654480 ; COSM5654481 ; COSM5654482
• MyVariant Identifiers: chr3:g.121712543C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993696C>T , CM000665.2:g.121993696C>T	GRCh38
NC_000003.11:g.121712543C>T , CM000665.1:g.121712543C>T	GRCh37
NC_000003.10:g.123195233C>T	NCBI36
NG_031870.1:g.33585G>A
NG_031870.2:g.71859G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1053G>A MANE Select	ENSP00000345667.5:p.Gln351=
ENST00000460554.2:n.1003G>A
ENST00000642615.1:c.*236G>A	ENSP00000495499.1:n.*236G>A
ENST00000273691.7:c.921G>A	ENSP00000273691.3:p.Gln307=
ENST00000344209.9:c.1053G>A	ENSP00000345667.5:p.Gln351=
ENST00000393631.5:c.786G>A	ENSP00000377251.1:p.Gln262=
ENST00000460554.1:n.1155G>A
ENST00000462014.1:c.957G>A	ENSP00000419414.1:p.Gln319=
NM_001199799.1:c.1053G>A	NP_001186728.1:p.Gln351=
NM_001199800.1:c.786G>A	NP_001186729.1:p.Gln262=
NM_175924.3:c.921G>A	NP_787120.1:p.Gln307=
XM_005247389.3:c.957G>A	XP_005247446.1:p.Gln319=
XM_011512738.1:c.1053G>A	XP_011511040.1:p.Gln351=
XM_011512739.1:c.516G>A	XP_011511041.1:p.Gln172=
XM_005247389.4:c.957G>A	XP_005247446.1:p.Gln319=
XM_011512738.2:c.1053G>A	XP_011511040.1:p.Gln351=
XM_011512739.2:c.516G>A	XP_011511041.1:p.Gln172=
NM_001199799.2:c.1053G>A MANE Select	NP_001186728.1:p.Gln351=
NM_001199800.2:c.786G>A	NP_001186729.1:p.Gln262=
NM_175924.4:c.921G>A	NP_787120.1:p.Gln307=