Canonical Allele Identifier: CA2568746

Gene: ILDR1

Linked Data

• ClinVar Variation Id: 2262208
• ClinVar RCV Id: RCV002808162
• dbSNP Id: rs373563420
• ExAC: 3:121712420 T / G
• gnomAD v2: 3-121712420-T-G
• gnomAD v3: 3-121993573-T-G
• gnomAD v4: 3-121993573-T-G
• MyVariant Identifiers: chr3:g.121712420T>G (hg19) ; chr3:g.121993573T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993573T>G , CM000665.2:g.121993573T>G	GRCh38
NC_000003.11:g.121712420T>G , CM000665.1:g.121712420T>G	GRCh37
NC_000003.10:g.123195110T>G	NCBI36
NG_031870.1:g.33708A>C
NG_031870.2:g.71982A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1176A>C MANE Select	ENSP00000345667.5:p.Arg392Ser
ENST00000460554.2:n.1126A>C
ENST00000642615.1:c.*359A>C	ENSP00000495499.1:n.*359A>C
ENST00000273691.7:c.1044A>C	ENSP00000273691.3:p.Arg348Ser
ENST00000344209.9:c.1176A>C	ENSP00000345667.5:p.Arg392Ser
ENST00000393631.5:c.909A>C	ENSP00000377251.1:p.Arg303Ser
ENST00000460554.1:n.1278A>C
ENST00000462014.1:c.1080A>C	ENSP00000419414.1:p.Arg360Ser
NM_001199799.1:c.1176A>C	NP_001186728.1:p.Arg392Ser
NM_001199800.1:c.909A>C	NP_001186729.1:p.Arg303Ser
NM_175924.3:c.1044A>C	NP_787120.1:p.Arg348Ser
XM_005247389.3:c.1080A>C	XP_005247446.1:p.Arg360Ser
XM_011512738.1:c.1176A>C	XP_011511040.1:p.Arg392Ser
XM_011512739.1:c.639A>C	XP_011511041.1:p.Arg213Ser
XM_005247389.4:c.1080A>C	XP_005247446.1:p.Arg360Ser
XM_011512738.2:c.1176A>C	XP_011511040.1:p.Arg392Ser
XM_011512739.2:c.639A>C	XP_011511041.1:p.Arg213Ser
NM_001199799.2:c.1176A>C MANE Select	NP_001186728.1:p.Arg392Ser
NM_001199800.2:c.909A>C	NP_001186729.1:p.Arg303Ser
NM_175924.4:c.1044A>C	NP_787120.1:p.Arg348Ser