Canonical Allele Identifier: CA4432795
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 549979
ClinVar RCV Id: RCV002499145 RCV003472064
dbSNP Id: rs747076316
ExAC: 7:107335067 C / T
gnomAD v2: 7-107335067-C-T
gnomAD v3: 7-107694622-C-T
gnomAD v4: 7-107694622-C-T
MyVariant Identifiers: chr7:g.107335067C>T (hg19) chr7:g.107694622C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107694622C>T , CM000669.2:g.107694622C>T GRCh38
NC_000007.13:g.107335067C>T , CM000669.1:g.107335067C>T GRCh37
NC_000007.12:g.107122303C>T NCBI36
NG_008489.1:g.38988C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000644269.2:c.1343C>T MANE Select ENSP00000494017.1:p.Ser448Leu
ENST00000644846.1:c.54C>T
ENST00000265715.7:c.1343C>T ENSP00000265715.3:p.Ser448Leu
ENST00000460748.1:n.446C>T
ENST00000477350.5:n.190C>T
ENST00000480841.5:n.192C>T
ENST00000497446.5:n.358C>T
NM_000441.1:c.1343C>T NP_000432.1:p.Ser448Leu
XM_005250425.1:c.1343C>T XP_005250482.1:p.Ser448Leu
XM_005250425.2:c.1343C>T XP_005250482.1:p.Ser448Leu
XM_017012318.1:c.1265C>T XP_016867807.1:p.Ser422Leu
NM_000441.2:c.1343C>T MANE Select NP_000432.1:p.Ser448Leu
Search 100 bp 5'
Search 100 bp 3'