Canonical Allele Identifier: CA182223

Gene: ILDR1

Linked Data

• ClinVar Variation Id: 178382
• ClinVar RCV Id: RCV000155129 ; RCV001704129
• dbSNP Id: rs150250182
• ExAC: 3:121712437 A / G
• gnomAD v2: 3-121712437-A-G
• gnomAD v3: 3-121993590-A-G
• gnomAD v4: 3-121993590-A-G
• MyVariant Identifiers: chr3:g.121712437A>G (hg19) ; chr3:g.121993590A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993590A>G , CM000665.2:g.121993590A>G	GRCh38
NC_000003.11:g.121712437A>G , CM000665.1:g.121712437A>G	GRCh37
NC_000003.10:g.123195127A>G	NCBI36
NG_031870.1:g.33691T>C
NG_031870.2:g.71965T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1159T>C MANE Select	ENSP00000345667.5:p.Ser387Pro
ENST00000460554.2:n.1109T>C
ENST00000642615.1:c.*342T>C	ENSP00000495499.1:n.*342T>C
ENST00000273691.7:c.1027T>C	ENSP00000273691.3:p.Ser343Pro
ENST00000344209.9:c.1159T>C	ENSP00000345667.5:p.Ser387Pro
ENST00000393631.5:c.892T>C	ENSP00000377251.1:p.Ser298Pro
ENST00000460554.1:n.1261T>C
ENST00000462014.1:c.1063T>C	ENSP00000419414.1:p.Ser355Pro
NM_001199799.1:c.1159T>C	NP_001186728.1:p.Ser387Pro
NM_001199800.1:c.892T>C	NP_001186729.1:p.Ser298Pro
NM_175924.3:c.1027T>C	NP_787120.1:p.Ser343Pro
XM_005247389.3:c.1063T>C	XP_005247446.1:p.Ser355Pro
XM_011512738.1:c.1159T>C	XP_011511040.1:p.Ser387Pro
XM_011512739.1:c.622T>C	XP_011511041.1:p.Ser208Pro
XM_005247389.4:c.1063T>C	XP_005247446.1:p.Ser355Pro
XM_011512738.2:c.1159T>C	XP_011511040.1:p.Ser387Pro
XM_011512739.2:c.622T>C	XP_011511041.1:p.Ser208Pro
NM_001199799.2:c.1159T>C MANE Select	NP_001186728.1:p.Ser387Pro
NM_001199800.2:c.892T>C	NP_001186729.1:p.Ser298Pro
NM_175924.4:c.1027T>C	NP_787120.1:p.Ser343Pro