Canonical Allele Identifier: CA253315

Gene: SLC26A4 SLC26A4-AS1

Linked Data

• ClinVar Variation Id: 4839
• ClinVar RCV Id: RCV000005111 ; RCV000036509 ; RCV000169251 ; RCV000656195 ; RCV001040420 ; RCV002496264 ; RCV004528081
• dbSNP Id: rs111033205
• ExAC: 7:107302171 G / C
• gnomAD v2: 7-107302171-G-C
• gnomAD v3: 7-107661726-G-C
• gnomAD v4: 7-107661726-G-C
• MyVariant Identifiers: chr7:g.107302171G>C (hg19) ; chr7:g.107661726G>C (hg38)
• PubMed: PMID:11317356 ; PMID:12642503 ; PMID:14679580 ; PMID:15099345 ; PMID:15355436 ; PMID:16570074 ; PMID:16950989 ; PMID:17503324 ; PMID:18285825 ; PMID:19017801 ; PMID:19608655 ; PMID:20597900 ; PMID:23336812 ; PMID:24224479

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107661726G>C , CM000669.2:g.107661726G>C	GRCh38
NC_000007.13:g.107302171G>C , CM000669.1:g.107302171G>C	GRCh37
NC_000007.12:g.107089407G>C	NCBI36
NG_008489.1:g.6092G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644269.2:c.85G>C (SLC26A4) MANE Select	ENSP00000494017.1:p.Glu29Gln
ENST00000265715.7:c.85G>C (SLC26A4)	ENSP00000265715.3:p.Glu29Gln
ENST00000440056.1:c.85G>C (SLC26A4)	ENSP00000394760.1:p.Glu29Gln
NM_000441.1:c.85G>C (SLC26A4)	NP_000432.1:p.Glu29Gln
NR_028137.1:n.73C>G (SLC26A4-AS1)
XM_005250425.1:c.85G>C (SLC26A4)	XP_005250482.1:p.Glu29Gln
XM_006716025.2:c.85G>C (SLC26A4)	XP_006716088.1:p.Glu29Gln
XM_005250425.2:c.85G>C (SLC26A4)	XP_005250482.1:p.Glu29Gln
XM_006716025.3:c.85G>C (SLC26A4)	XP_006716088.1:p.Glu29Gln
XM_017012318.1:c.85G>C (SLC26A4)	XP_016867807.1:p.Glu29Gln
NM_000441.2:c.85G>C (SLC26A4) MANE Select	NP_000432.1:p.Glu29Gln