Canonical Allele Identifier: CA2568645

Gene: ILDR1

Linked Data

• ClinVar Variation Id: 1405577
• ClinVar RCV Id: RCV001903909
• dbSNP Id: rs745614639
• ExAC: 3:121712089 G / A
• gnomAD v2: 3-121712089-G-A
• gnomAD v3: 3-121993242-G-A
• gnomAD v4: 3-121993242-G-A
• MyVariant Identifiers: chr3:g.121712089G>A (hg19) ; chr3:g.121993242G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993242G>A , CM000665.2:g.121993242G>A	GRCh38
NC_000003.11:g.121712089G>A , CM000665.1:g.121712089G>A	GRCh37
NC_000003.10:g.123194779G>A	NCBI36
NG_031870.1:g.34039C>T
NG_031870.2:g.72313C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1507C>T MANE Select	ENSP00000345667.5:p.His503Tyr
ENST00000460554.2:n.1457C>T
ENST00000642615.1:c.*690C>T	ENSP00000495499.1:n.*690C>T
ENST00000273691.7:c.1375C>T	ENSP00000273691.3:p.His459Tyr
ENST00000344209.9:c.1507C>T	ENSP00000345667.5:p.His503Tyr
ENST00000393631.5:c.1240C>T	ENSP00000377251.1:p.His414Tyr
ENST00000460554.1:n.1609C>T
ENST00000462014.1:c.1411C>T	ENSP00000419414.1:p.His471Tyr
NM_001199799.1:c.1507C>T	NP_001186728.1:p.His503Tyr
NM_001199800.1:c.1240C>T	NP_001186729.1:p.His414Tyr
NM_175924.3:c.1375C>T	NP_787120.1:p.His459Tyr
XM_005247389.3:c.1411C>T	XP_005247446.1:p.His471Tyr
XM_011512738.1:c.1507C>T	XP_011511040.1:p.His503Tyr
XM_011512739.1:c.970C>T	XP_011511041.1:p.His324Tyr
XM_005247389.4:c.1411C>T	XP_005247446.1:p.His471Tyr
XM_011512738.2:c.1507C>T	XP_011511040.1:p.His503Tyr
XM_011512739.2:c.970C>T	XP_011511041.1:p.His324Tyr
NM_001199799.2:c.1507C>T MANE Select	NP_001186728.1:p.His503Tyr
NM_001199800.2:c.1240C>T	NP_001186729.1:p.His414Tyr
NM_175924.4:c.1375C>T	NP_787120.1:p.His459Tyr