Canonical Allele Identifier: CA132721

Gene: SLC26A4 SLC26A4-AS1

Linked Data

• ClinVar Variation Id: 43550
• ClinVar RCV Id: RCV000036486 ; RCV000665402 ; RCV000723704 ; RCV001785464
• dbSNP Id: rs200102493
• ExAC: 7:107302114 C / A
• gnomAD v2: 7-107302114-C-A
• gnomAD v3: 7-107661669-C-A
• gnomAD v4: 7-107661669-C-A
• MyVariant Identifiers: chr7:g.107302114C>A (hg19) ; chr7:g.107661669C>A (hg38)
• PubMed: PMID:17309986

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107661669C>A , CM000669.2:g.107661669C>A	GRCh38
NC_000007.13:g.107302114C>A , CM000669.1:g.107302114C>A	GRCh37
NC_000007.12:g.107089350C>A	NCBI36
NG_008489.1:g.6035C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000644269.2:c.28C>A (SLC26A4) MANE Select	ENSP00000494017.1:p.Pro10Thr
ENST00000265715.7:c.28C>A (SLC26A4)	ENSP00000265715.3:p.Pro10Thr
ENST00000440056.1:c.28C>A (SLC26A4)	ENSP00000394760.1:p.Pro10Thr
NM_000441.1:c.28C>A (SLC26A4)	NP_000432.1:p.Pro10Thr
NR_028137.1:n.130G>T (SLC26A4-AS1)
XM_005250425.1:c.28C>A (SLC26A4)	XP_005250482.1:p.Pro10Thr
XM_006716025.2:c.28C>A (SLC26A4)	XP_006716088.1:p.Pro10Thr
XM_005250425.2:c.28C>A (SLC26A4)	XP_005250482.1:p.Pro10Thr
XM_006716025.3:c.28C>A (SLC26A4)	XP_006716088.1:p.Pro10Thr
XM_017012318.1:c.28C>A (SLC26A4)	XP_016867807.1:p.Pro10Thr
NM_000441.2:c.28C>A (SLC26A4) MANE Select	NP_000432.1:p.Pro10Thr