Canonical Allele Identifier: CA368846153
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1187576
ClinVar RCV Id: RCV001547065
dbSNP Id: rs1057517303
gnomAD v2: 7-107350637-T-C
gnomAD v3: 7-107710192-T-C
gnomAD v4: 7-107710192-T-C
MyVariant Identifiers: chr7:g.107350637T>C (hg19) chr7:g.107710192T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107710192T>C , CM000669.2:g.107710192T>C GRCh38
NC_000007.13:g.107350637T>C , CM000669.1:g.107350637T>C GRCh37
NC_000007.12:g.107137873T>C NCBI36
NG_008489.1:g.54558T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000644269.2:c.2228T>C MANE Select ENSP00000494017.1:p.Leu743Ser
ENST00000644846.1:c.884T>C
ENST00000265715.7:c.2228T>C ENSP00000265715.3:p.Leu743Ser
ENST00000492030.2:n.414T>C
NM_000441.1:c.2228T>C NP_000432.1:p.Leu743Ser
XM_005250425.1:c.2228T>C XP_005250482.1:p.Leu743Ser
XM_005250425.2:c.2228T>C XP_005250482.1:p.Leu743Ser
XM_017012318.1:c.2150T>C XP_016867807.1:p.Leu717Ser
NM_000441.2:c.2228T>C MANE Select NP_000432.1:p.Leu743Ser
Search 100 bp 5'
Search 100 bp 3'