Canonical Allele Identifier: CA261423
Gene: SLC26A4 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.107702038G>A
GRCh37 chr7:g.107342483G>A
Revel Score:
ENST00000265715 0.853
ENST00000541474 0.853
ENST00000544569 0.853
ENST00000543100 0.853
gnomAD v2:
7:107342483 G / A
gnomAD v3:
7:107702038 G / A
gnomAD v4:
chr7-107702038-G-A
Joint Max Group AF 0.00017539 (NFE)
Genomes Max Group AF 0.00009046 (NFE)
Exomes Max Group AF 0.00017674 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107702038G>A , CM000669.2:g.107702038G>A GRCh38
NC_000007.13:g.107342483G>A , CM000669.1:g.107342483G>A GRCh37
NC_000007.12:g.107129719G>A NCBI36
NG_008489.1:g.46404G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.2015G>A MANE Select ENSP00000494017.1:p.Gly672Glu
ENST00000644846.1:c.726G>A
ENST00000265715.7:c.2015G>A ENSP00000265715.3:p.Gly672Glu
ENST00000492030.2:n.302G>A
NM_000441.1:c.2015G>A NP_000432.1:p.Gly672Glu
XM_005250425.1:c.2015G>A XP_005250482.1:p.Gly672Glu
XM_005250425.2:c.2015G>A XP_005250482.1:p.Gly672Glu
XM_017012318.1:c.1937G>A XP_016867807.1:p.Gly646Glu
NM_000441.2:c.2015G>A MANE Select NP_000432.1:p.Gly672Glu
Search 100 bp 5'
Search 100 bp 3'