Canonical Allele Identifier: CA2568742

Gene: ILDR1

Linked Data

• dbSNP Id: rs752483215
• ExAC: 3:121712400 C / G
• gnomAD v2: 3-121712400-C-G
• gnomAD v4: 3-121993553-C-G
• MyVariant Identifiers: chr3:g.121712400C>G (hg19) ; chr3:g.121993553C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993553C>G , CM000665.2:g.121993553C>G	GRCh38
NC_000003.11:g.121712400C>G , CM000665.1:g.121712400C>G	GRCh37
NC_000003.10:g.123195090C>G	NCBI36
NG_031870.1:g.33728G>C
NG_031870.2:g.72002G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1196G>C MANE Select	ENSP00000345667.5:p.Trp399Ser
ENST00000460554.2:n.1146G>C
ENST00000642615.1:c.*379G>C	ENSP00000495499.1:n.*379G>C
ENST00000273691.7:c.1064G>C	ENSP00000273691.3:p.Trp355Ser
ENST00000344209.9:c.1196G>C	ENSP00000345667.5:p.Trp399Ser
ENST00000393631.5:c.929G>C	ENSP00000377251.1:p.Trp310Ser
ENST00000460554.1:n.1298G>C
ENST00000462014.1:c.1100G>C	ENSP00000419414.1:p.Trp367Ser
NM_001199799.1:c.1196G>C	NP_001186728.1:p.Trp399Ser
NM_001199800.1:c.929G>C	NP_001186729.1:p.Trp310Ser
NM_175924.3:c.1064G>C	NP_787120.1:p.Trp355Ser
XM_005247389.3:c.1100G>C	XP_005247446.1:p.Trp367Ser
XM_011512738.1:c.1196G>C	XP_011511040.1:p.Trp399Ser
XM_011512739.1:c.659G>C	XP_011511041.1:p.Trp220Ser
XM_005247389.4:c.1100G>C	XP_005247446.1:p.Trp367Ser
XM_011512738.2:c.1196G>C	XP_011511040.1:p.Trp399Ser
XM_011512739.2:c.659G>C	XP_011511041.1:p.Trp220Ser
NM_001199799.2:c.1196G>C MANE Select	NP_001186728.1:p.Trp399Ser
NM_001199800.2:c.929G>C	NP_001186729.1:p.Trp310Ser
NM_175924.4:c.1064G>C	NP_787120.1:p.Trp355Ser