Canonical Allele Identifier: CA4432610
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 370192
ClinVar RCV Id: RCV000409855 RCV000812506 RCV001089561
dbSNP Id: rs768245266
ExAC: 7:107323796 T / TG
gnomAD v2: 7-107323796-T-TG
gnomAD v3: 7-107683351-T-TG
gnomAD v4: 7-107683351-T-TG
MyVariant Identifiers: chr7:g.107323797dupG (hg19) chr7:g.107323796_107323797insG (hg19) chr7:g.107683352dupG (hg38) chr7:g.107683351_107683352insG (hg38)
PubMed: PMID:17718863
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107683352dup , CM000669.2:g.107683352dup GRCh38
NC_000007.13:g.107323797dup , CM000669.1:g.107323797dup GRCh37
NC_000007.12:g.107111033dup NCBI36
NG_008489.1:g.27718dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.916dup MANE Select ENSP00000494017.1:p.Val306GlyfsTer24
ENST00000265715.7:c.916dup ENSP00000265715.3:p.Val306GlyfsTer24
NM_000441.1:c.916dup NP_000432.1:p.Val306GlyfsTer24
XM_005250425.1:c.916dup XP_005250482.1:p.Val306GlyfsTer24
XM_006716025.2:c.916dup XP_006716088.1:p.Val306GlyfsTer24
XM_005250425.2:c.916dup XP_005250482.1:p.Val306GlyfsTer24
XM_006716025.3:c.916dup XP_006716088.1:p.Val306GlyfsTer24
XM_017012318.1:c.916dup XP_016867807.1:p.Val306GlyfsTer24
NM_000441.2:c.916dup MANE Select NP_000432.1:p.Val306GlyfsTer24
Search 100 bp 5'
Search 100 bp 3'