Canonical Allele Identifier: CA354142355

Gene: ILDR1

Linked Data

• dbSNP Id: rs1411712039
• gnomAD v2: 3-121712132-C-G
• MyVariant Identifiers: chr3:g.121712132C>G (hg19) ; chr3:g.121993285C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993285C>G , CM000665.2:g.121993285C>G	GRCh38
NC_000003.11:g.121712132C>G , CM000665.1:g.121712132C>G	GRCh37
NC_000003.10:g.123194822C>G	NCBI36
NG_031870.1:g.33996G>C
NG_031870.2:g.72270G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1464G>C MANE Select	ENSP00000345667.5:p.Gln488His
ENST00000460554.2:n.1414G>C
ENST00000642615.1:c.*647G>C	ENSP00000495499.1:n.*647G>C
ENST00000273691.7:c.1332G>C	ENSP00000273691.3:p.Gln444His
ENST00000344209.9:c.1464G>C	ENSP00000345667.5:p.Gln488His
ENST00000393631.5:c.1197G>C	ENSP00000377251.1:p.Gln399His
ENST00000460554.1:n.1566G>C
ENST00000462014.1:c.1368G>C	ENSP00000419414.1:p.Gln456His
NM_001199799.1:c.1464G>C	NP_001186728.1:p.Gln488His
NM_001199800.1:c.1197G>C	NP_001186729.1:p.Gln399His
NM_175924.3:c.1332G>C	NP_787120.1:p.Gln444His
XM_005247389.3:c.1368G>C	XP_005247446.1:p.Gln456His
XM_011512738.1:c.1464G>C	XP_011511040.1:p.Gln488His
XM_011512739.1:c.927G>C	XP_011511041.1:p.Gln309His
XM_005247389.4:c.1368G>C	XP_005247446.1:p.Gln456His
XM_011512738.2:c.1464G>C	XP_011511040.1:p.Gln488His
XM_011512739.2:c.927G>C	XP_011511041.1:p.Gln309His
NM_001199799.2:c.1464G>C MANE Select	NP_001186728.1:p.Gln488His
NM_001199800.2:c.1197G>C	NP_001186729.1:p.Gln399His
NM_175924.4:c.1332G>C	NP_787120.1:p.Gln444His