Canonical Allele Identifier: CA1052924538

Gene: ILDR1

Linked Data

• dbSNP Id: rs2072166670
• gnomAD v3: 3-122050570-C-G
• gnomAD v4: 3-122050570-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122050570C>G , CM000665.2:g.122050570C>G	GRCh38
NC_000003.11:g.121769417C>G , CM000665.1:g.121769417C>G	GRCh37
NC_000003.10:g.123252107C>G	NCBI36
NG_029928.1:g.209C>G
NG_031870.2:g.14985G>C

Transcript Alleles

HGVS	Amino-acid Change
XM_011512739.1:c.-348+9850G>C	XP_011511041.1:n.-348+9850G>C
XM_011512739.2:c.-348+9850G>C	XP_011511041.1:n.-348+9850G>C