Canonical Allele Identifier: CA4432825
Gene: SLC26A4 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.107695940G>C
GRCh37 chr7:g.107336385G>C
Revel Score:
ENST00000265715 0.908
ENST00000541474 0.908
ENST00000544569 0.908
ENST00000543100 0.908
gnomAD v2:
7:107336385 G / C
gnomAD v3:
7:107695940 G / C
gnomAD v4:
chr7-107695940-G-C
Joint Max Group AF 0.00005442 (AMR)
Exomes Max Group AF 0.00007289 (AMR)
ClinVar RCV:
RCV001889500
RCV002553560
ClinVar Variation:
1390239
dbSNP:
774182356
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107695940G>C , CM000669.2:g.107695940G>C GRCh38
NC_000007.13:g.107336385G>C , CM000669.1:g.107336385G>C GRCh37
NC_000007.12:g.107123621G>C NCBI36
NG_008489.1:g.40306G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.1445G>C MANE Select ENSP00000494017.1:p.Trp482Ser
ENST00000644846.1:c.156G>C
ENST00000265715.7:c.1445G>C ENSP00000265715.3:p.Trp482Ser
ENST00000460748.1:n.548G>C
ENST00000477350.5:n.292G>C
ENST00000480841.5:n.294G>C
ENST00000497446.5:n.460G>C
NM_000441.1:c.1445G>C NP_000432.1:p.Trp482Ser
XM_005250425.1:c.1445G>C XP_005250482.1:p.Trp482Ser
XM_005250425.2:c.1445G>C XP_005250482.1:p.Trp482Ser
XM_017012318.1:c.1367G>C XP_016867807.1:p.Trp456Ser
NM_000441.2:c.1445G>C MANE Select NP_000432.1:p.Trp482Ser
Search 100 bp 5'
Search 100 bp 3'