Canonical Allele Identifier: CA4433082
Gene: SLC26A4 HGNC NCBI

Linked Data

dbSNP Id: rs780626619
ExAC: 7:107350636 T / A
gnomAD v2: 7-107350636-T-A
gnomAD v4: 7-107710191-T-A
MyVariant Identifiers: chr7:g.107350636T>A (hg19) chr7:g.107710191T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107710191T>A , CM000669.2:g.107710191T>A GRCh38
NC_000007.13:g.107350636T>A , CM000669.1:g.107350636T>A GRCh37
NC_000007.12:g.107137872T>A NCBI36
NG_008489.1:g.54557T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.2227T>A MANE Select ENSP00000494017.1:p.Leu743Ile
ENST00000644846.1:c.883T>A
ENST00000265715.7:c.2227T>A ENSP00000265715.3:p.Leu743Ile
ENST00000492030.2:n.413T>A
NM_000441.1:c.2227T>A NP_000432.1:p.Leu743Ile
XM_005250425.1:c.2227T>A XP_005250482.1:p.Leu743Ile
XM_005250425.2:c.2227T>A XP_005250482.1:p.Leu743Ile
XM_017012318.1:c.2149T>A XP_016867807.1:p.Leu717Ile
NM_000441.2:c.2227T>A MANE Select NP_000432.1:p.Leu743Ile
Search 100 bp 5'
Search 100 bp 3'