Canonical Allele Identifier: CA354143569

Gene: ILDR1

Linked Data

• gnomAD v4: 3-121993593-T-G
• MyVariant Identifiers: chr3:g.121712440T>G (hg19) ; chr3:g.121993593T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993593T>G , CM000665.2:g.121993593T>G	GRCh38
NC_000003.11:g.121712440T>G , CM000665.1:g.121712440T>G	GRCh37
NC_000003.10:g.123195130T>G	NCBI36
NG_031870.1:g.33688A>C
NG_031870.2:g.71962A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000344209.10:c.1156A>C MANE Select	ENSP00000345667.5:p.Lys386Gln
ENST00000460554.2:n.1106A>C
ENST00000642615.1:c.*339A>C	ENSP00000495499.1:n.*339A>C
ENST00000273691.7:c.1024A>C	ENSP00000273691.3:p.Lys342Gln
ENST00000344209.9:c.1156A>C	ENSP00000345667.5:p.Lys386Gln
ENST00000393631.5:c.889A>C	ENSP00000377251.1:p.Lys297Gln
ENST00000460554.1:n.1258A>C
ENST00000462014.1:c.1060A>C	ENSP00000419414.1:p.Lys354Gln
NM_001199799.1:c.1156A>C	NP_001186728.1:p.Lys386Gln
NM_001199800.1:c.889A>C	NP_001186729.1:p.Lys297Gln
NM_175924.3:c.1024A>C	NP_787120.1:p.Lys342Gln
XM_005247389.3:c.1060A>C	XP_005247446.1:p.Lys354Gln
XM_011512738.1:c.1156A>C	XP_011511040.1:p.Lys386Gln
XM_011512739.1:c.619A>C	XP_011511041.1:p.Lys207Gln
XM_005247389.4:c.1060A>C	XP_005247446.1:p.Lys354Gln
XM_011512738.2:c.1156A>C	XP_011511040.1:p.Lys386Gln
XM_011512739.2:c.619A>C	XP_011511041.1:p.Lys207Gln
NM_001199799.2:c.1156A>C MANE Select	NP_001186728.1:p.Lys386Gln
NM_001199800.2:c.889A>C	NP_001186729.1:p.Lys297Gln
NM_175924.4:c.1024A>C	NP_787120.1:p.Lys342Gln