Canonical Allele Identifier: CA4432491
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 667159
ClinVar RCV Id: RCV000825823 RCV001161068 RCV001161069 RCV001395450
dbSNP Id: rs370020280
ExAC: 7:107314679 C / T
gnomAD v2: 7-107314679-C-T
gnomAD v3: 7-107674234-C-T
gnomAD v4: 7-107674234-C-T
COSMIC: COSM4898351
MyVariant Identifiers: chr7:g.107314679C>T (hg19) chr7:g.107314679_107314680delinsTG (hg19) chr7:g.107674234C>T (hg38) chr7:g.107674234_107674235delinsTG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107674234C>T , CM000669.2:g.107674234C>T GRCh38
NC_000007.13:g.107314679C>T , CM000669.1:g.107314679C>T GRCh37
NC_000007.12:g.107101915C>T NCBI36
NG_008489.1:g.18600C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000644269.2:c.486C>T MANE Select ENSP00000494017.1:p.Leu162=
ENST00000265715.7:c.486C>T ENSP00000265715.3:p.Leu162=
NM_000441.1:c.486C>T NP_000432.1:p.Leu162=
XM_005250425.1:c.486C>T XP_005250482.1:p.Leu162=
XM_006716025.2:c.486C>T XP_006716088.1:p.Leu162=
XM_005250425.2:c.486C>T XP_005250482.1:p.Leu162=
XM_006716025.3:c.486C>T XP_006716088.1:p.Leu162=
XM_017012318.1:c.486C>T XP_016867807.1:p.Leu162=
NM_000441.2:c.486C>T MANE Select NP_000432.1:p.Leu162=
Search 100 bp 5'
Search 100 bp 3'