Canonical Allele Identifier: CA368846164
Gene: SLC26A4 HGNC NCBI

Linked Data

dbSNP Id: rs1442822753
gnomAD v3: 7-107710194-G-A
gnomAD v4: 7-107710194-G-A
MyVariant Identifiers: chr7:g.107350639G>A (hg19) chr7:g.107710194G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107710194G>A , CM000669.2:g.107710194G>A GRCh38
NC_000007.13:g.107350639G>A , CM000669.1:g.107350639G>A GRCh37
NC_000007.12:g.107137875G>A NCBI36
NG_008489.1:g.54560G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.2230G>A MANE Select ENSP00000494017.1:p.Glu744Lys
ENST00000644846.1:c.886G>A
ENST00000265715.7:c.2230G>A ENSP00000265715.3:p.Glu744Lys
ENST00000492030.2:n.416G>A
NM_000441.1:c.2230G>A NP_000432.1:p.Glu744Lys
XM_005250425.1:c.2230G>A XP_005250482.1:p.Glu744Lys
XM_005250425.2:c.2230G>A XP_005250482.1:p.Glu744Lys
XM_017012318.1:c.2152G>A XP_016867807.1:p.Glu718Lys
NM_000441.2:c.2230G>A MANE Select NP_000432.1:p.Glu744Lys
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