Canonical Allele Identifier: CA274019

Gene: SLC26A4

Linked Data

• ClinVar Variation Id: 188838
• ClinVar RCV Id: RCV000169187 ; RCV001040907
• dbSNP Id: rs786204504
• gnomAD v4: 7-107661804-AG-A
• MyVariant Identifiers: chr7:g.107302251del (hg19) ; chr7:g.107661806del (hg38)
• PubMed: PMID:22717225 ; PMID:23918157

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107661806del , CM000669.2:g.107661806del	GRCh38
NC_000007.13:g.107302251del , CM000669.1:g.107302251del	GRCh37
NC_000007.12:g.107089487del	NCBI36
NG_008489.1:g.6172del

Transcript Alleles

HGVS	Amino-acid change
ENST00000644269.2:c.164+1del
ENST00000265715.7:c.164+1del
ENST00000440056.1:c.164+1del
NM_000441.1:c.164+1del
XM_005250425.1:c.164+1del
XM_006716025.2:c.164+1del
XM_005250425.2:c.164+1del
XM_006716025.3:c.164+1del
XM_017012318.1:c.164+1del
NM_000441.2:c.164+1del