Canonical Allele Identifier: CA253315
Gene: SLC26A4 HGNC NCBI
SLC26A4-AS1 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.107661726G>C
GRCh37 chr7:g.107302171G>C
Revel Score:
ENST00000265715 0.642
ENST00000440056 0.642
gnomAD v2:
7:107302171 G / C
gnomAD v3:
7:107661726 G / C
gnomAD v4:
chr7-107661726-G-C
Joint Max Group AF 0.00017604 (NFE)
Genomes Max Group AF 0.00014672 (NFE)
Exomes Max Group AF 0.00017324 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107661726G>C , CM000669.2:g.107661726G>C GRCh38
NC_000007.13:g.107302171G>C , CM000669.1:g.107302171G>C GRCh37
NC_000007.12:g.107089407G>C NCBI36
NG_008489.1:g.6092G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.85G>C (SLC26A4) MANE Select ENSP00000494017.1:p.Glu29Gln
ENST00000265715.7:c.85G>C (SLC26A4) ENSP00000265715.3:p.Glu29Gln
ENST00000440056.1:c.85G>C (SLC26A4) ENSP00000394760.1:p.Glu29Gln
NM_000441.1:c.85G>C (SLC26A4) NP_000432.1:p.Glu29Gln
NR_028137.1:n.73C>G (SLC26A4-AS1)
XM_005250425.1:c.85G>C (SLC26A4) XP_005250482.1:p.Glu29Gln
XM_006716025.2:c.85G>C (SLC26A4) XP_006716088.1:p.Glu29Gln
XM_005250425.2:c.85G>C (SLC26A4) XP_005250482.1:p.Glu29Gln
XM_006716025.3:c.85G>C (SLC26A4) XP_006716088.1:p.Glu29Gln
XM_017012318.1:c.85G>C (SLC26A4) XP_016867807.1:p.Glu29Gln
NM_000441.2:c.85G>C (SLC26A4) MANE Select NP_000432.1:p.Glu29Gln
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Search 100 bp 3'