Canonical Allele Identifier: CA898088911

Gene: ILDR1

Linked Data

• dbSNP Id: rs569807017
• gnomAD v3: 3-122050551-C-A
• gnomAD v4: 3-122050551-C-A
• MyVariant Identifiers: chr3:g.121769398C>A (hg19) ; chr3:g.122050551C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122050551C>A , CM000665.2:g.122050551C>A	GRCh38
NC_000003.11:g.121769398C>A , CM000665.1:g.121769398C>A	GRCh37
NC_000003.10:g.123252088C>A	NCBI36
NG_029928.1:g.190C>A
NG_031870.2:g.15004G>T

Transcript Alleles

HGVS	Amino-acid Change
XM_011512739.1:c.-348+9869G>T	XP_011511041.1:n.-348+9869G>T
XM_011512739.2:c.-348+9869G>T	XP_011511041.1:n.-348+9869G>T