Canonical Allele Identifier: CA354135966

Gene: ILDR1

Linked Data

• dbSNP Id: rs1336689895
• gnomAD v2: 3-121740884-C-A
• gnomAD v3: 3-122022037-C-A
• gnomAD v4: 3-122022037-C-A
• MyVariant Identifiers: chr3:g.121740884C>A (hg19) ; chr3:g.122022037C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122022037C>A , CM000665.2:g.122022037C>A	GRCh38
NC_000003.11:g.121740884C>A , CM000665.1:g.121740884C>A	GRCh37
NC_000003.10:g.123223574C>A	NCBI36
NG_031870.1:g.5244G>T
NG_031870.2:g.43518G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.41G>T MANE Select	ENSP00000345667.5:p.Cys14Phe
ENST00000642615.1:c.41G>T	ENSP00000495499.1:p.Cys14Phe
ENST00000273691.7:c.41G>T	ENSP00000273691.3:p.Cys14Phe
ENST00000344209.9:c.41G>T	ENSP00000345667.5:p.Cys14Phe
ENST00000393631.5:c.41G>T	ENSP00000377251.1:p.Cys14Phe
ENST00000460554.1:n.162G>T
NM_001199799.1:c.41G>T	NP_001186728.1:p.Cys14Phe
NM_001199800.1:c.41G>T	NP_001186729.1:p.Cys14Phe
NM_175924.3:c.41G>T	NP_787120.1:p.Cys14Phe
XM_011512738.1:c.41G>T	XP_011511040.1:p.Cys14Phe
XM_011512739.1:c.-347-14876G>T	XP_011511041.1:n.-347-14876G>T
XM_011512738.2:c.41G>T	XP_011511040.1:p.Cys14Phe
XM_011512739.2:c.-347-14876G>T	XP_011511041.1:n.-347-14876G>T
NM_001199799.2:c.41G>T MANE Select	NP_001186728.1:p.Cys14Phe
NM_001199800.2:c.41G>T	NP_001186729.1:p.Cys14Phe
NM_175924.4:c.41G>T	NP_787120.1:p.Cys14Phe