Canonical Allele Identifier: CA247129

Gene: ILDR1

Linked Data

• ClinVar Variation Id: 198462
• ClinVar RCV Id: RCV000179819
• dbSNP Id: rs794727852
• gnomAD v2: 3-121712304-C-T
• gnomAD v4: 3-121993457-C-T
• MyVariant Identifiers: chr3:g.121712304C>T (hg19) ; chr3:g.121993457C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993457C>T , CM000665.2:g.121993457C>T	GRCh38
NC_000003.11:g.121712304C>T , CM000665.1:g.121712304C>T	GRCh37
NC_000003.10:g.123194994C>T	NCBI36
NG_031870.1:g.33824G>A
NG_031870.2:g.72098G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000344209.10:c.1292G>A MANE Select	ENSP00000345667.5:p.Arg431His
ENST00000460554.2:n.1242G>A
ENST00000642615.1:c.*475G>A	ENSP00000495499.1:n.*475G>A
ENST00000273691.7:c.1160G>A	ENSP00000273691.3:p.Arg387His
ENST00000344209.9:c.1292G>A	ENSP00000345667.5:p.Arg431His
ENST00000393631.5:c.1025G>A	ENSP00000377251.1:p.Arg342His
ENST00000460554.1:n.1394G>A
ENST00000462014.1:c.1196G>A	ENSP00000419414.1:p.Arg399His
NM_001199799.1:c.1292G>A	NP_001186728.1:p.Arg431His
NM_001199800.1:c.1025G>A	NP_001186729.1:p.Arg342His
NM_175924.3:c.1160G>A	NP_787120.1:p.Arg387His
XM_005247389.3:c.1196G>A	XP_005247446.1:p.Arg399His
XM_011512738.1:c.1292G>A	XP_011511040.1:p.Arg431His
XM_011512739.1:c.755G>A	XP_011511041.1:p.Arg252His
XM_005247389.4:c.1196G>A	XP_005247446.1:p.Arg399His
XM_011512738.2:c.1292G>A	XP_011511040.1:p.Arg431His
XM_011512739.2:c.755G>A	XP_011511041.1:p.Arg252His
NM_001199799.2:c.1292G>A MANE Select	NP_001186728.1:p.Arg431His
NM_001199800.2:c.1025G>A	NP_001186729.1:p.Arg342His
NM_175924.4:c.1160G>A	NP_787120.1:p.Arg387His