Canonical Allele Identifier: CA2568751

Gene: ILDR1

Linked Data

• ClinVar Variation Id: 1216104
• ClinVar RCV Id: RCV001593767 ; RCV002579454
• dbSNP Id: rs146697721
• ExAC: 3:121712431 C / T
• gnomAD v2: 3-121712431-C-T
• gnomAD v3: 3-121993584-C-T
• gnomAD v4: 3-121993584-C-T
• MyVariant Identifiers: chr3:g.121712431C>T (hg19) ; chr3:g.121993584C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993584C>T , CM000665.2:g.121993584C>T	GRCh38
NC_000003.11:g.121712431C>T , CM000665.1:g.121712431C>T	GRCh37
NC_000003.10:g.123195121C>T	NCBI36
NG_031870.1:g.33697G>A
NG_031870.2:g.71971G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1165G>A MANE Select	ENSP00000345667.5:p.Ala389Thr
ENST00000460554.2:n.1115G>A
ENST00000642615.1:c.*348G>A	ENSP00000495499.1:n.*348G>A
ENST00000273691.7:c.1033G>A	ENSP00000273691.3:p.Ala345Thr
ENST00000344209.9:c.1165G>A	ENSP00000345667.5:p.Ala389Thr
ENST00000393631.5:c.898G>A	ENSP00000377251.1:p.Ala300Thr
ENST00000460554.1:n.1267G>A
ENST00000462014.1:c.1069G>A	ENSP00000419414.1:p.Ala357Thr
NM_001199799.1:c.1165G>A	NP_001186728.1:p.Ala389Thr
NM_001199800.1:c.898G>A	NP_001186729.1:p.Ala300Thr
NM_175924.3:c.1033G>A	NP_787120.1:p.Ala345Thr
XM_005247389.3:c.1069G>A	XP_005247446.1:p.Ala357Thr
XM_011512738.1:c.1165G>A	XP_011511040.1:p.Ala389Thr
XM_011512739.1:c.628G>A	XP_011511041.1:p.Ala210Thr
XM_005247389.4:c.1069G>A	XP_005247446.1:p.Ala357Thr
XM_011512738.2:c.1165G>A	XP_011511040.1:p.Ala389Thr
XM_011512739.2:c.628G>A	XP_011511041.1:p.Ala210Thr
NM_001199799.2:c.1165G>A MANE Select	NP_001186728.1:p.Ala389Thr
NM_001199800.2:c.898G>A	NP_001186729.1:p.Ala300Thr
NM_175924.4:c.1033G>A	NP_787120.1:p.Ala345Thr