Canonical Allele Identifier: CA4432362

Gene: SLC26A4 SLC26A4-AS1

Linked Data

• ClinVar Variation Id: 517167
• ClinVar RCV Id: RCV000613400 ; RCV000883697
• dbSNP Id: rs566715839
• ExAC: 7:107302176 C / G
• gnomAD v2: 7-107302176-C-G
• gnomAD v3: 7-107661731-C-G
• gnomAD v4: 7-107661731-C-G
• MyVariant Identifiers: chr7:g.107302176C>G (hg19) ; chr7:g.107661731C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107661731C>G , CM000669.2:g.107661731C>G	GRCh38
NC_000007.13:g.107302176C>G , CM000669.1:g.107302176C>G	GRCh37
NC_000007.12:g.107089412C>G	NCBI36
NG_008489.1:g.6097C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644269.2:c.90C>G (SLC26A4) MANE Select	ENSP00000494017.1:p.Leu30=
ENST00000265715.7:c.90C>G (SLC26A4)	ENSP00000265715.3:p.Leu30=
ENST00000440056.1:c.90C>G (SLC26A4)	ENSP00000394760.1:p.Leu30=
NM_000441.1:c.90C>G (SLC26A4)	NP_000432.1:p.Leu30=
NR_028137.1:n.68G>C (SLC26A4-AS1)
XM_005250425.1:c.90C>G (SLC26A4)	XP_005250482.1:p.Leu30=
XM_006716025.2:c.90C>G (SLC26A4)	XP_006716088.1:p.Leu30=
XM_005250425.2:c.90C>G (SLC26A4)	XP_005250482.1:p.Leu30=
XM_006716025.3:c.90C>G (SLC26A4)	XP_006716088.1:p.Leu30=
XM_017012318.1:c.90C>G (SLC26A4)	XP_016867807.1:p.Leu30=
NM_000441.2:c.90C>G (SLC26A4) MANE Select	NP_000432.1:p.Leu30=