Canonical Allele Identifier: CA354144026

Gene: ILDR1

Linked Data

• COSMIC: COSM4457398 ; COSM4457399 ; COSM4457400
• MyVariant Identifiers: chr3:g.121712553G>A (hg19) ; chr3:g.121993706G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993706G>A , CM000665.2:g.121993706G>A	GRCh38
NC_000003.11:g.121712553G>A , CM000665.1:g.121712553G>A	GRCh37
NC_000003.10:g.123195243G>A	NCBI36
NG_031870.1:g.33575C>T
NG_031870.2:g.71849C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1043C>T MANE Select	ENSP00000345667.5:p.Ser348Phe
ENST00000460554.2:n.993C>T
ENST00000642615.1:c.*226C>T	ENSP00000495499.1:n.*226C>T
ENST00000273691.7:c.911C>T	ENSP00000273691.3:p.Ser304Phe
ENST00000344209.9:c.1043C>T	ENSP00000345667.5:p.Ser348Phe
ENST00000393631.5:c.776C>T	ENSP00000377251.1:p.Ser259Phe
ENST00000460554.1:n.1145C>T
ENST00000462014.1:c.947C>T	ENSP00000419414.1:p.Ser316Phe
NM_001199799.1:c.1043C>T	NP_001186728.1:p.Ser348Phe
NM_001199800.1:c.776C>T	NP_001186729.1:p.Ser259Phe
NM_175924.3:c.911C>T	NP_787120.1:p.Ser304Phe
XM_005247389.3:c.947C>T	XP_005247446.1:p.Ser316Phe
XM_011512738.1:c.1043C>T	XP_011511040.1:p.Ser348Phe
XM_011512739.1:c.506C>T	XP_011511041.1:p.Ser169Phe
XM_005247389.4:c.947C>T	XP_005247446.1:p.Ser316Phe
XM_011512738.2:c.1043C>T	XP_011511040.1:p.Ser348Phe
XM_011512739.2:c.506C>T	XP_011511041.1:p.Ser169Phe
NM_001199799.2:c.1043C>T MANE Select	NP_001186728.1:p.Ser348Phe
NM_001199800.2:c.776C>T	NP_001186729.1:p.Ser259Phe
NM_175924.4:c.911C>T	NP_787120.1:p.Ser304Phe