Canonical Allele Identifier: CA368839155
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2678934
ClinVar RCV Id: RCV003472910
dbSNP Id: rs1791526110
gnomAD v3: 7-107690146-G-A
gnomAD v4: 7-107690146-G-A
MyVariant Identifiers: chr7:g.107330591G>A (hg19) chr7:g.107690146G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107690146G>A , CM000669.2:g.107690146G>A GRCh38
NC_000007.13:g.107330591G>A , CM000669.1:g.107330591G>A GRCh37
NC_000007.12:g.107117827G>A NCBI36
NG_008489.1:g.34512G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.1172G>A MANE Select ENSP00000494017.1:p.Ser391Asn
ENST00000265715.7:c.1172G>A ENSP00000265715.3:p.Ser391Asn
NM_000441.1:c.1172G>A NP_000432.1:p.Ser391Asn
XM_005250425.1:c.1172G>A XP_005250482.1:p.Ser391Asn
XM_006716025.2:c.1172G>A XP_006716088.1:p.Ser391Asn
XM_005250425.2:c.1172G>A XP_005250482.1:p.Ser391Asn
XM_006716025.3:c.1172G>A XP_006716088.1:p.Ser391Asn
XM_017012318.1:c.1172G>A XP_016867807.1:p.Ser391Asn
NM_000441.2:c.1172G>A MANE Select NP_000432.1:p.Ser391Asn
Search 100 bp 5'
Search 100 bp 3'