Canonical Allele Identifier: CA354143817

Gene: ILDR1

Linked Data

• ClinVar Variation Id: 517458
• ClinVar RCV Id: RCV000602874
• dbSNP Id: rs1553743343
• gnomAD v4: 3-121993612-C-G
• MyVariant Identifiers: chr3:g.121712459C>G (hg19) ; chr3:g.121993612C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993612C>G , CM000665.2:g.121993612C>G	GRCh38
NC_000003.11:g.121712459C>G , CM000665.1:g.121712459C>G	GRCh37
NC_000003.10:g.123195149C>G	NCBI36
NG_031870.1:g.33669G>C
NG_031870.2:g.71943G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1137G>C MANE Select	ENSP00000345667.5:p.Glu379Asp
ENST00000460554.2:n.1087G>C
ENST00000642615.1:c.*320G>C	ENSP00000495499.1:n.*320G>C
ENST00000273691.7:c.1005G>C	ENSP00000273691.3:p.Glu335Asp
ENST00000344209.9:c.1137G>C	ENSP00000345667.5:p.Glu379Asp
ENST00000393631.5:c.870G>C	ENSP00000377251.1:p.Glu290Asp
ENST00000460554.1:n.1239G>C
ENST00000462014.1:c.1041G>C	ENSP00000419414.1:p.Glu347Asp
NM_001199799.1:c.1137G>C	NP_001186728.1:p.Glu379Asp
NM_001199800.1:c.870G>C	NP_001186729.1:p.Glu290Asp
NM_175924.3:c.1005G>C	NP_787120.1:p.Glu335Asp
XM_005247389.3:c.1041G>C	XP_005247446.1:p.Glu347Asp
XM_011512738.1:c.1137G>C	XP_011511040.1:p.Glu379Asp
XM_011512739.1:c.600G>C	XP_011511041.1:p.Glu200Asp
XM_005247389.4:c.1041G>C	XP_005247446.1:p.Glu347Asp
XM_011512738.2:c.1137G>C	XP_011511040.1:p.Glu379Asp
XM_011512739.2:c.600G>C	XP_011511041.1:p.Glu200Asp
NM_001199799.2:c.1137G>C MANE Select	NP_001186728.1:p.Glu379Asp
NM_001199800.2:c.870G>C	NP_001186729.1:p.Glu290Asp
NM_175924.4:c.1005G>C	NP_787120.1:p.Glu335Asp