Canonical Allele Identifier: CA132658
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 43499
ClinVar RCV Id: RCV000036431 RCV000670464 RCV001785457 RCV002490496 RCV003137559
dbSNP Id: rs111033527
ExAC: 7:107330653 G / A
gnomAD v2: 7-107330653-G-A
gnomAD v3: 7-107690208-G-A
gnomAD v4: 7-107690208-G-A
MyVariant Identifiers: chr7:g.107330653G>A (hg19) chr7:g.107690208G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107690208G>A , CM000669.2:g.107690208G>A GRCh38
NC_000007.13:g.107330653G>A , CM000669.1:g.107330653G>A GRCh37
NC_000007.12:g.107117889G>A NCBI36
NG_008489.1:g.34574G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.1234G>A MANE Select ENSP00000494017.1:p.Val412Ile
ENST00000265715.7:c.1234G>A ENSP00000265715.3:p.Val412Ile
NM_000441.1:c.1234G>A NP_000432.1:p.Val412Ile
XM_005250425.1:c.1234G>A XP_005250482.1:p.Val412Ile
XM_006716025.2:c.1234G>A XP_006716088.1:p.Val412Ile
XM_005250425.2:c.1234G>A XP_005250482.1:p.Val412Ile
XM_006716025.3:c.1234G>A XP_006716088.1:p.Val412Ile
XM_017012318.1:c.1234G>A XP_016867807.1:p.Val412Ile
NM_000441.2:c.1234G>A MANE Select NP_000432.1:p.Val412Ile
Search 100 bp 5'
Search 100 bp 3'