Canonical Allele Identifier: CA4432962
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 752891
ClinVar RCV Id: RCV000930074
dbSNP Id: rs746917249
ExAC: 7:107342263 T / C
gnomAD v2: 7-107342263-T-C
gnomAD v3: 7-107701818-T-C
gnomAD v4: 7-107701818-T-C
MyVariant Identifiers: chr7:g.107342263T>C (hg19) chr7:g.107701818T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107701818T>C , CM000669.2:g.107701818T>C GRCh38
NC_000007.13:g.107342263T>C , CM000669.1:g.107342263T>C GRCh37
NC_000007.12:g.107129499T>C NCBI36
NG_008489.1:g.46184T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000644269.2:c.1804-9T>C MANE Select ENSP00000494017.1:n.1804-9T>C
ENST00000644846.1:c.515-9T>C
ENST00000265715.7:c.1804-9T>C ENSP00000265715.3:n.1804-9T>C
ENST00000480841.5:n.653-9T>C
ENST00000492030.2:n.91-9T>C
NM_000441.1:c.1804-9T>C NP_000432.1:n.1804-9T>C
XM_005250425.1:c.1804-9T>C XP_005250482.1:n.1804-9T>C
XM_005250425.2:c.1804-9T>C XP_005250482.1:n.1804-9T>C
XM_017012318.1:c.1726-9T>C XP_016867807.1:n.1726-9T>C
NM_000441.2:c.1804-9T>C MANE Select NP_000432.1:n.1804-9T>C
Search 100 bp 5'
Search 100 bp 3'