Canonical Allele Identifier: CA2568761

Gene: ILDR1

Linked Data

• ClinVar Variation Id: 2355105
• ClinVar RCV Id: RCV002946623
• dbSNP Id: rs751310993
• ExAC: 3:121712509 C / G
• gnomAD v2: 3-121712509-C-G
• gnomAD v4: 3-121993662-C-G
• MyVariant Identifiers: chr3:g.121712509C>G (hg19) ; chr3:g.121993662C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993662C>G , CM000665.2:g.121993662C>G	GRCh38
NC_000003.11:g.121712509C>G , CM000665.1:g.121712509C>G	GRCh37
NC_000003.10:g.123195199C>G	NCBI36
NG_031870.1:g.33619G>C
NG_031870.2:g.71893G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1087G>C MANE Select	ENSP00000345667.5:p.Asp363His
ENST00000460554.2:n.1037G>C
ENST00000642615.1:c.*270G>C	ENSP00000495499.1:n.*270G>C
ENST00000273691.7:c.955G>C	ENSP00000273691.3:p.Asp319His
ENST00000344209.9:c.1087G>C	ENSP00000345667.5:p.Asp363His
ENST00000393631.5:c.820G>C	ENSP00000377251.1:p.Asp274His
ENST00000460554.1:n.1189G>C
ENST00000462014.1:c.991G>C	ENSP00000419414.1:p.Asp331His
NM_001199799.1:c.1087G>C	NP_001186728.1:p.Asp363His
NM_001199800.1:c.820G>C	NP_001186729.1:p.Asp274His
NM_175924.3:c.955G>C	NP_787120.1:p.Asp319His
XM_005247389.3:c.991G>C	XP_005247446.1:p.Asp331His
XM_011512738.1:c.1087G>C	XP_011511040.1:p.Asp363His
XM_011512739.1:c.550G>C	XP_011511041.1:p.Asp184His
XM_005247389.4:c.991G>C	XP_005247446.1:p.Asp331His
XM_011512738.2:c.1087G>C	XP_011511040.1:p.Asp363His
XM_011512739.2:c.550G>C	XP_011511041.1:p.Asp184His
NM_001199799.2:c.1087G>C MANE Select	NP_001186728.1:p.Asp363His
NM_001199800.2:c.820G>C	NP_001186729.1:p.Asp274His
NM_175924.4:c.955G>C	NP_787120.1:p.Asp319His