Canonical Allele Identifier: CA4432678

Gene: SLC26A4

Linked Data

• ClinVar Variation Id: 794943
• ClinVar RCV Id: RCV000978237
• dbSNP Id: rs774874269
• ExAC: 7:107329597 A / G
• gnomAD v2: 7-107329597-A-G
• gnomAD v3: 7-107689152-A-G
• gnomAD v4: 7-107689152-A-G
• MyVariant Identifiers: chr7:g.107329597A>G (hg19) ; chr7:g.107689152A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107689152A>G , CM000669.2:g.107689152A>G	GRCh38
NC_000007.13:g.107329597A>G , CM000669.1:g.107329597A>G	GRCh37
NC_000007.12:g.107116833A>G	NCBI36
NG_008489.1:g.33518A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000644269.2:c.1101A>G MANE Select	ENSP00000494017.1:p.Val367=
ENST00000265715.7:c.1101A>G	ENSP00000265715.3:p.Val367=
NM_000441.1:c.1101A>G	NP_000432.1:p.Val367=
XM_005250425.1:c.1101A>G	XP_005250482.1:p.Val367=
XM_006716025.2:c.1101A>G	XP_006716088.1:p.Val367=
XM_005250425.2:c.1101A>G	XP_005250482.1:p.Val367=
XM_006716025.3:c.1101A>G	XP_006716088.1:p.Val367=
XM_017012318.1:c.1101A>G	XP_016867807.1:p.Val367=
NM_000441.2:c.1101A>G MANE Select	NP_000432.1:p.Val367=