Canonical Allele Identifier: CA129477

Gene: ILDR1

Linked Data

• ClinVar Variation Id: 30798
• ClinVar RCV Id: RCV000023783
• dbSNP Id: rs387907017
• gnomAD v2: 3-121720218-G-A
• gnomAD v4: 3-122001371-G-A
• MyVariant Identifiers: chr3:g.121720218G>A (hg19) ; chr3:g.122001371G>A (hg38)
• PubMed: PMID:21255762

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122001371G>A , CM000665.2:g.122001371G>A	GRCh38
NC_000003.11:g.121720218G>A , CM000665.1:g.121720218G>A	GRCh37
NC_000003.10:g.123202908G>A	NCBI36
NG_031870.1:g.25910C>T
NG_031870.2:g.64184C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000344209.10:c.583C>T MANE Select	ENSP00000345667.5:p.Gln195Ter
ENST00000460554.2:n.665C>T
ENST00000642615.1:c.583C>T	ENSP00000495499.1:p.Gln195Ter
ENST00000273691.7:c.583C>T	ENSP00000273691.3:p.Gln195Ter
ENST00000344209.9:c.583C>T	ENSP00000345667.5:p.Gln195Ter
ENST00000393631.5:c.379+3873C>T	ENSP00000377251.1:n.379+3873C>T
ENST00000460554.1:n.704C>T
ENST00000462014.1:c.619C>T	ENSP00000419414.1:p.Gln207Ter
NM_001199799.1:c.583C>T	NP_001186728.1:p.Gln195Ter
NM_001199800.1:c.379+3873C>T	NP_001186729.1:n.379+3873C>T
NM_175924.3:c.583C>T	NP_787120.1:p.Gln195Ter
XM_005247389.3:c.619C>T	XP_005247446.1:p.Gln207Ter
XM_011512738.1:c.583C>T	XP_011511040.1:p.Gln195Ter
XM_011512739.1:c.178C>T	XP_011511041.1:p.Gln60Ter
XM_005247389.4:c.619C>T	XP_005247446.1:p.Gln207Ter
XM_011512738.2:c.583C>T	XP_011511040.1:p.Gln195Ter
XM_011512739.2:c.178C>T	XP_011511041.1:p.Gln60Ter
NM_001199799.2:c.583C>T MANE Select	NP_001186728.1:p.Gln195Ter
NM_001199800.2:c.379+3873C>T	NP_001186729.1:n.379+3873C>T
NM_175924.4:c.583C>T	NP_787120.1:p.Gln195Ter