Canonical Allele Identifier: CA261435

Gene: SLC26A4 SLC26A4-AS1

Linked Data

• ClinVar Variation Id: 43563
• ClinVar RCV Id: RCV000036502 ; RCV000169606 ; RCV000726682
• dbSNP Id: rs397516430
• gnomAD v3: 7-107661709-C-A
• gnomAD v4: 7-107661709-C-A
• MyVariant Identifiers: chr7:g.107302154C>A (hg19) ; chr7:g.107661709C>A (hg38)
• PubMed: PMID:15355436

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107661709C>A , CM000669.2:g.107661709C>A	GRCh38
NC_000007.13:g.107302154C>A , CM000669.1:g.107302154C>A	GRCh37
NC_000007.12:g.107089390C>A	NCBI36
NG_008489.1:g.6075C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000644269.2:c.68C>A (SLC26A4) MANE Select	ENSP00000494017.1:p.Ser23Ter
ENST00000265715.7:c.68C>A (SLC26A4)	ENSP00000265715.3:p.Ser23Ter
ENST00000440056.1:c.68C>A (SLC26A4)	ENSP00000394760.1:p.Ser23Ter
NM_000441.1:c.68C>A (SLC26A4)	NP_000432.1:p.Ser23Ter
NR_028137.1:n.90G>T (SLC26A4-AS1)
XM_005250425.1:c.68C>A (SLC26A4)	XP_005250482.1:p.Ser23Ter
XM_006716025.2:c.68C>A (SLC26A4)	XP_006716088.1:p.Ser23Ter
XM_005250425.2:c.68C>A (SLC26A4)	XP_005250482.1:p.Ser23Ter
XM_006716025.3:c.68C>A (SLC26A4)	XP_006716088.1:p.Ser23Ter
XM_017012318.1:c.68C>A (SLC26A4)	XP_016867807.1:p.Ser23Ter
NM_000441.2:c.68C>A (SLC26A4) MANE Select	NP_000432.1:p.Ser23Ter