Canonical Allele Identifier: CA4432640
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1609834
ClinVar RCV Id: RCV002152717
dbSNP Id: rs774232219
ExAC: 7:107323974 C / T
gnomAD v2: 7-107323974-C-T
gnomAD v4: 7-107683529-C-T
MyVariant Identifiers: chr7:g.107323974C>T (hg19) chr7:g.107683529C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107683529C>T , CM000669.2:g.107683529C>T GRCh38
NC_000007.13:g.107323974C>T , CM000669.1:g.107323974C>T GRCh37
NC_000007.12:g.107111210C>T NCBI36
NG_008489.1:g.27895C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.993C>T MANE Select ENSP00000494017.1:p.Ile331=
ENST00000265715.7:c.993C>T ENSP00000265715.3:p.Ile331=
NM_000441.1:c.993C>T NP_000432.1:p.Ile331=
XM_005250425.1:c.993C>T XP_005250482.1:p.Ile331=
XM_006716025.2:c.993C>T XP_006716088.1:p.Ile331=
XM_005250425.2:c.993C>T XP_005250482.1:p.Ile331=
XM_006716025.3:c.993C>T XP_006716088.1:p.Ile331=
XM_017012318.1:c.993C>T XP_016867807.1:p.Ile331=
NM_000441.2:c.993C>T MANE Select NP_000432.1:p.Ile331=
Search 100 bp 5'
Search 100 bp 3'