Canonical Allele Identifier: CA129475

Gene: ILDR1

Linked Data

• ClinVar Variation Id: 30797
• ClinVar RCV Id: RCV000023782 ; RCV001291340
• dbSNP Id: rs387907016
• gnomAD v4: 3-122022075-C-T
• MyVariant Identifiers: chr3:g.121740922C>T (hg19) ; chr3:g.122022075C>T (hg38)
• PubMed: PMID:15641023 ; PMID:21255762

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122022075C>T , CM000665.2:g.122022075C>T	GRCh38
NC_000003.11:g.121740922C>T , CM000665.1:g.121740922C>T	GRCh37
NC_000003.10:g.123223612C>T	NCBI36
NG_031870.1:g.5206G>A
NG_031870.2:g.43480G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.3G>A MANE Select	ENSP00000345667.5:p.Met1Ile
ENST00000642615.1:c.3G>A	ENSP00000495499.1:p.Met1Ile
ENST00000273691.7:c.3G>A	ENSP00000273691.3:p.Met1Ile
ENST00000344209.9:c.3G>A	ENSP00000345667.5:p.Met1Ile
ENST00000393631.5:c.3G>A	ENSP00000377251.1:p.Met1Ile
ENST00000460554.1:n.124G>A
NM_001199799.1:c.3G>A	NP_001186728.1:p.Met1Ile
NM_001199800.1:c.3G>A	NP_001186729.1:p.Met1Ile
NM_175924.3:c.3G>A	NP_787120.1:p.Met1Ile
XM_011512738.1:c.3G>A	XP_011511040.1:p.Met1Ile
XM_011512739.1:c.-347-14914G>A	XP_011511041.1:n.-347-14914G>A
XM_011512738.2:c.3G>A	XP_011511040.1:p.Met1Ile
XM_011512739.2:c.-347-14914G>A	XP_011511041.1:n.-347-14914G>A
NM_001199799.2:c.3G>A MANE Select	NP_001186728.1:p.Met1Ile
NM_001199800.2:c.3G>A	NP_001186729.1:p.Met1Ile
NM_175924.4:c.3G>A	NP_787120.1:p.Met1Ile