Canonical Allele Identifier: CA261413
Gene: SLC26A4 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.107695984G>A
GRCh37 chr7:g.107336429G>A
Revel Score:
ENST00000265715 0.967
ENST00000541474 0.967
ENST00000544569 0.967
ENST00000543100 0.967
gnomAD v2:
7:107336429 G / A
gnomAD v3:
7:107695984 G / A
gnomAD v4:
chr7-107695984-G-A
Joint Max Group AF 0.00003475 (AFR)
Genomes Max Group AF 0.00003253 (AFR)
Exomes Max Group AF 0.0000099 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107695984G>A , CM000669.2:g.107695984G>A GRCh38
NC_000007.13:g.107336429G>A , CM000669.1:g.107336429G>A GRCh37
NC_000007.12:g.107123665G>A NCBI36
NG_008489.1:g.40350G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.1489G>A MANE Select ENSP00000494017.1:p.Gly497Ser
ENST00000644846.1:c.200G>A
ENST00000265715.7:c.1489G>A ENSP00000265715.3:p.Gly497Ser
ENST00000477350.5:n.336G>A
ENST00000480841.5:n.338G>A
ENST00000497446.5:n.504G>A
NM_000441.1:c.1489G>A NP_000432.1:p.Gly497Ser
XM_005250425.1:c.1489G>A XP_005250482.1:p.Gly497Ser
XM_005250425.2:c.1489G>A XP_005250482.1:p.Gly497Ser
XM_017012318.1:c.1411G>A XP_016867807.1:p.Gly471Ser
NM_000441.2:c.1489G>A MANE Select NP_000432.1:p.Gly497Ser
Search 100 bp 5'
Search 100 bp 3'