Canonical Allele Identifier: CA261416

Gene: SLC26A4

Linked Data

• ClinVar Variation Id: 43516
• ClinVar RCV Id: RCV000036451 ; RCV000359760 ; RCV000515698 ; RCV000984218 ; RCV002477084
• dbSNP Id: rs111033312
• ExAC: 7:107338557 G / A
• gnomAD v2: 7-107338557-G-A
• gnomAD v3: 7-107698112-G-A
• gnomAD v4: 7-107698112-G-A
• MyVariant Identifiers: chr7:g.107338557G>A (hg19) ; chr7:g.107698112G>A (hg38)
• PubMed: PMID:11919333 ; PMID:15355436 ; PMID:18285825 ; PMID:20597900 ; PMID:21704276 ; PMID:24105851

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107698112G>A , CM000669.2:g.107698112G>A	GRCh38
NC_000007.13:g.107338557G>A , CM000669.1:g.107338557G>A	GRCh37
NC_000007.12:g.107125793G>A	NCBI36
NG_008489.1:g.42478G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644269.2:c.1614+1G>A MANE Select	ENSP00000494017.1:n.1614+1G>A
ENST00000644846.1:c.325+1G>A
ENST00000265715.7:c.1614+1G>A	ENSP00000265715.3:n.1614+1G>A
ENST00000477350.5:n.461+1G>A
ENST00000480841.5:n.463+1G>A
NM_000441.1:c.1614+1G>A	NP_000432.1:n.1614+1G>A
XM_005250425.1:c.1614+1G>A	XP_005250482.1:n.1614+1G>A
XM_005250425.2:c.1614+1G>A	XP_005250482.1:n.1614+1G>A
XM_017012318.1:c.1536+1G>A	XP_016867807.1:n.1536+1G>A
NM_000441.2:c.1614+1G>A MANE Select	NP_000432.1:n.1614+1G>A