Canonical Allele Identifier: CA4432774
Gene: SLC26A4 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.107694454G>A
GRCh37 chr7:g.107334899G>A
Revel Score:
ENST00000265715 0.961
ENST00000544569 0.961
ENST00000543100 0.961
gnomAD v2:
7:107334899 G / A
gnomAD v4:
chr7-107694454-G-A
Joint Max Group AF 0.00002978 (EAS)
Exomes Max Group AF 0.00003348 (EAS)
ClinVar RCV:
RCV003555360
RCV004527460
ClinVar Variation:
2735069
dbSNP:
746046215
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107694454G>A , CM000669.2:g.107694454G>A GRCh38
NC_000007.13:g.107334899G>A , CM000669.1:g.107334899G>A GRCh37
NC_000007.12:g.107122135G>A NCBI36
NG_008489.1:g.38820G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.1315G>A MANE Select ENSP00000494017.1:p.Gly439Arg
ENST00000644846.1:c.26G>A
ENST00000265715.7:c.1315G>A ENSP00000265715.3:p.Gly439Arg
ENST00000460748.1:n.418G>A
ENST00000477350.5:n.189-167G>A
ENST00000480841.5:n.164G>A
ENST00000497446.5:n.330G>A
NM_000441.1:c.1315G>A NP_000432.1:p.Gly439Arg
XM_005250425.1:c.1315G>A XP_005250482.1:p.Gly439Arg
XM_005250425.2:c.1315G>A XP_005250482.1:p.Gly439Arg
XM_017012318.1:c.1264-167G>A XP_016867807.1:n.1264-167G>A
NM_000441.2:c.1315G>A MANE Select NP_000432.1:p.Gly439Arg
Search 100 bp 5'
Search 100 bp 3'