Canonical Allele Identifier: CA2568756

Gene: ILDR1

Linked Data

• dbSNP Id: rs145794433
• ExAC: 3:121712449 G / A
• gnomAD v2: 3-121712449-G-A
• gnomAD v3: 3-121993602-G-A
• gnomAD v4: 3-121993602-G-A
• MyVariant Identifiers: chr3:g.121712449G>A (hg19) ; chr3:g.121993602G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993602G>A , CM000665.2:g.121993602G>A	GRCh38
NC_000003.11:g.121712449G>A , CM000665.1:g.121712449G>A	GRCh37
NC_000003.10:g.123195139G>A	NCBI36
NG_031870.1:g.33679C>T
NG_031870.2:g.71953C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1147C>T MANE Select	ENSP00000345667.5:p.Arg383Trp
ENST00000460554.2:n.1097C>T
ENST00000642615.1:c.*330C>T	ENSP00000495499.1:n.*330C>T
ENST00000273691.7:c.1015C>T	ENSP00000273691.3:p.Arg339Trp
ENST00000344209.9:c.1147C>T	ENSP00000345667.5:p.Arg383Trp
ENST00000393631.5:c.880C>T	ENSP00000377251.1:p.Arg294Trp
ENST00000460554.1:n.1249C>T
ENST00000462014.1:c.1051C>T	ENSP00000419414.1:p.Arg351Trp
NM_001199799.1:c.1147C>T	NP_001186728.1:p.Arg383Trp
NM_001199800.1:c.880C>T	NP_001186729.1:p.Arg294Trp
NM_175924.3:c.1015C>T	NP_787120.1:p.Arg339Trp
XM_005247389.3:c.1051C>T	XP_005247446.1:p.Arg351Trp
XM_011512738.1:c.1147C>T	XP_011511040.1:p.Arg383Trp
XM_011512739.1:c.610C>T	XP_011511041.1:p.Arg204Trp
XM_005247389.4:c.1051C>T	XP_005247446.1:p.Arg351Trp
XM_011512738.2:c.1147C>T	XP_011511040.1:p.Arg383Trp
XM_011512739.2:c.610C>T	XP_011511041.1:p.Arg204Trp
NM_001199799.2:c.1147C>T MANE Select	NP_001186728.1:p.Arg383Trp
NM_001199800.2:c.880C>T	NP_001186729.1:p.Arg294Trp
NM_175924.4:c.1015C>T	NP_787120.1:p.Arg339Trp