Canonical Allele Identifier: CA2568620

Gene: ILDR1

Linked Data

• dbSNP Id: rs748280061
• ExAC: 3:121712018 T / C
• gnomAD v2: 3-121712018-T-C
• gnomAD v3: 3-121993171-T-C
• gnomAD v4: 3-121993171-T-C
• MyVariant Identifiers: chr3:g.121712018T>C (hg19) ; chr3:g.121993171T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993171T>C , CM000665.2:g.121993171T>C	GRCh38
NC_000003.11:g.121712018T>C , CM000665.1:g.121712018T>C	GRCh37
NC_000003.10:g.123194708T>C	NCBI36
NG_031870.1:g.34110A>G
NG_031870.2:g.72384A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1578A>G MANE Select	ENSP00000345667.5:p.Lys526=
ENST00000460554.2:n.1528A>G
ENST00000642615.1:c.*761A>G	ENSP00000495499.1:n.*761A>G
ENST00000273691.7:c.1446A>G	ENSP00000273691.3:p.Lys482=
ENST00000344209.9:c.1578A>G	ENSP00000345667.5:p.Lys526=
ENST00000393631.5:c.1311A>G	ENSP00000377251.1:p.Lys437=
ENST00000460554.1:n.1680A>G
ENST00000462014.1:c.1482A>G	ENSP00000419414.1:p.Lys494=
NM_001199799.1:c.1578A>G	NP_001186728.1:p.Lys526=
NM_001199800.1:c.1311A>G	NP_001186729.1:p.Lys437=
NM_175924.3:c.1446A>G	NP_787120.1:p.Lys482=
XM_005247389.3:c.1482A>G	XP_005247446.1:p.Lys494=
XM_011512738.1:c.1558+20A>G	XP_011511040.1:n.1558+20A>G
XM_011512739.1:c.1041A>G	XP_011511041.1:p.Lys347=
XM_005247389.4:c.1482A>G	XP_005247446.1:p.Lys494=
XM_011512738.2:c.1558+20A>G	XP_011511040.1:n.1558+20A>G
XM_011512739.2:c.1041A>G	XP_011511041.1:p.Lys347=
NM_001199799.2:c.1578A>G MANE Select	NP_001186728.1:p.Lys526=
NM_001199800.2:c.1311A>G	NP_001186729.1:p.Lys437=
NM_175924.4:c.1446A>G	NP_787120.1:p.Lys482=