Canonical Allele Identifier: CA354142546

Gene: ILDR1

Linked Data

• ClinVar Variation Id: 1371549
• ClinVar RCV Id: RCV001879047 ; RCV002551123
• dbSNP Id: rs753090807
• gnomAD v2: 3-121712167-T-G
• gnomAD v3: 3-121993320-T-G
• gnomAD v4: 3-121993320-T-G
• MyVariant Identifiers: chr3:g.121712167T>G (hg19) ; chr3:g.121993320T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993320T>G , CM000665.2:g.121993320T>G	GRCh38
NC_000003.11:g.121712167T>G , CM000665.1:g.121712167T>G	GRCh37
NC_000003.10:g.123194857T>G	NCBI36
NG_031870.1:g.33961A>C
NG_031870.2:g.72235A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1429A>C MANE Select	ENSP00000345667.5:p.Ser477Arg
ENST00000460554.2:n.1379A>C
ENST00000642615.1:c.*612A>C	ENSP00000495499.1:n.*612A>C
ENST00000273691.7:c.1297A>C	ENSP00000273691.3:p.Ser433Arg
ENST00000344209.9:c.1429A>C	ENSP00000345667.5:p.Ser477Arg
ENST00000393631.5:c.1162A>C	ENSP00000377251.1:p.Ser388Arg
ENST00000460554.1:n.1531A>C
ENST00000462014.1:c.1333A>C	ENSP00000419414.1:p.Ser445Arg
NM_001199799.1:c.1429A>C	NP_001186728.1:p.Ser477Arg
NM_001199800.1:c.1162A>C	NP_001186729.1:p.Ser388Arg
NM_175924.3:c.1297A>C	NP_787120.1:p.Ser433Arg
XM_005247389.3:c.1333A>C	XP_005247446.1:p.Ser445Arg
XM_011512738.1:c.1429A>C	XP_011511040.1:p.Ser477Arg
XM_011512739.1:c.892A>C	XP_011511041.1:p.Ser298Arg
XM_005247389.4:c.1333A>C	XP_005247446.1:p.Ser445Arg
XM_011512738.2:c.1429A>C	XP_011511040.1:p.Ser477Arg
XM_011512739.2:c.892A>C	XP_011511041.1:p.Ser298Arg
NM_001199799.2:c.1429A>C MANE Select	NP_001186728.1:p.Ser477Arg
NM_001199800.2:c.1162A>C	NP_001186729.1:p.Ser388Arg
NM_175924.4:c.1297A>C	NP_787120.1:p.Ser433Arg