Canonical Allele Identifier: CA164207259

Gene: SLC26A4 SLC26A4-AS1

Linked Data

• ClinVar Variation Id: 2018278
• ClinVar RCV Id: RCV002830194
• dbSNP Id: rs539699299
• gnomAD v4: 7-107661725-C-G
• MyVariant Identifiers: chr7:g.107302170C>G (hg19) ; chr7:g.107661725C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107661725C>G , CM000669.2:g.107661725C>G	GRCh38
NC_000007.13:g.107302170C>G , CM000669.1:g.107302170C>G	GRCh37
NC_000007.12:g.107089406C>G	NCBI36
NG_008489.1:g.6091C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000644269.2:c.84C>G (SLC26A4) MANE Select	ENSP00000494017.1:p.Ser28Arg
ENST00000265715.7:c.84C>G (SLC26A4)	ENSP00000265715.3:p.Ser28Arg
ENST00000440056.1:c.84C>G (SLC26A4)	ENSP00000394760.1:p.Ser28Arg
NM_000441.1:c.84C>G (SLC26A4)	NP_000432.1:p.Ser28Arg
NR_028137.1:n.74G>C (SLC26A4-AS1)
XM_005250425.1:c.84C>G (SLC26A4)	XP_005250482.1:p.Ser28Arg
XM_006716025.2:c.84C>G (SLC26A4)	XP_006716088.1:p.Ser28Arg
XM_005250425.2:c.84C>G (SLC26A4)	XP_005250482.1:p.Ser28Arg
XM_006716025.3:c.84C>G (SLC26A4)	XP_006716088.1:p.Ser28Arg
XM_017012318.1:c.84C>G (SLC26A4)	XP_016867807.1:p.Ser28Arg
NM_000441.2:c.84C>G (SLC26A4) MANE Select	NP_000432.1:p.Ser28Arg