Canonical Allele Identifier: CA2568765

Gene: ILDR1

Linked Data

• ClinVar Variation Id: 1191591
• ClinVar RCV Id: RCV001552735
• dbSNP Id: rs147113814
• ExAC: 3:121712540 C / G
• gnomAD v2: 3-121712540-C-G
• gnomAD v3: 3-121993693-C-G
• gnomAD v4: 3-121993693-C-G
• MyVariant Identifiers: chr3:g.121712540C>G (hg19) ; chr3:g.121993693C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993693C>G , CM000665.2:g.121993693C>G	GRCh38
NC_000003.11:g.121712540C>G , CM000665.1:g.121712540C>G	GRCh37
NC_000003.10:g.123195230C>G	NCBI36
NG_031870.1:g.33588G>C
NG_031870.2:g.71862G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1056G>C MANE Select	ENSP00000345667.5:p.Gln352His
ENST00000460554.2:n.1006G>C
ENST00000642615.1:c.*239G>C	ENSP00000495499.1:n.*239G>C
ENST00000273691.7:c.924G>C	ENSP00000273691.3:p.Gln308His
ENST00000344209.9:c.1056G>C	ENSP00000345667.5:p.Gln352His
ENST00000393631.5:c.789G>C	ENSP00000377251.1:p.Gln263His
ENST00000460554.1:n.1158G>C
ENST00000462014.1:c.960G>C	ENSP00000419414.1:p.Gln320His
NM_001199799.1:c.1056G>C	NP_001186728.1:p.Gln352His
NM_001199800.1:c.789G>C	NP_001186729.1:p.Gln263His
NM_175924.3:c.924G>C	NP_787120.1:p.Gln308His
XM_005247389.3:c.960G>C	XP_005247446.1:p.Gln320His
XM_011512738.1:c.1056G>C	XP_011511040.1:p.Gln352His
XM_011512739.1:c.519G>C	XP_011511041.1:p.Gln173His
XM_005247389.4:c.960G>C	XP_005247446.1:p.Gln320His
XM_011512738.2:c.1056G>C	XP_011511040.1:p.Gln352His
XM_011512739.2:c.519G>C	XP_011511041.1:p.Gln173His
NM_001199799.2:c.1056G>C MANE Select	NP_001186728.1:p.Gln352His
NM_001199800.2:c.789G>C	NP_001186729.1:p.Gln263His
NM_175924.4:c.924G>C	NP_787120.1:p.Gln308His