Canonical Allele Identifier: CA16609565
Gene: SLC26A4 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.107704344T>C
GRCh37 chr7:g.107344789T>C
Revel Score:
ENST00000265715 0.863
ENST00000541474 0.863
ENST00000544569 0.863
ENST00000543100 0.863
gnomAD v2:
7:107344789 T / C
gnomAD v4:
chr7-107704344-T-C
Joint Max Group AF 0.000003 (NFE)
Exomes Max Group AF 0.00000322 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107704344T>C , CM000669.2:g.107704344T>C GRCh38
NC_000007.13:g.107344789T>C , CM000669.1:g.107344789T>C GRCh37
NC_000007.12:g.107132025T>C NCBI36
NG_008489.1:g.48710T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.2048T>C MANE Select ENSP00000494017.1:p.Phe683Ser
ENST00000644846.1:c.745+2287T>C
ENST00000265715.7:c.2048T>C ENSP00000265715.3:p.Phe683Ser
ENST00000492030.2:n.335T>C
NM_000441.1:c.2048T>C NP_000432.1:p.Phe683Ser
XM_005250425.1:c.2048T>C XP_005250482.1:p.Phe683Ser
XM_005250425.2:c.2048T>C XP_005250482.1:p.Phe683Ser
XM_017012318.1:c.1970T>C XP_016867807.1:p.Phe657Ser
NM_000441.2:c.2048T>C MANE Select NP_000432.1:p.Phe683Ser
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