Canonical Allele Identifier: CA4433061
Gene: SLC26A4 HGNC NCBI

Linked Data

dbSNP Id: rs375151702
ExAC: 7:107350572 G / A
gnomAD v2: 7-107350572-G-A
gnomAD v3: 7-107710127-G-A
gnomAD v4: 7-107710127-G-A
MyVariant Identifiers: chr7:g.107350572G>A (hg19) chr7:g.107710127G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107710127G>A , CM000669.2:g.107710127G>A GRCh38
NC_000007.13:g.107350572G>A , CM000669.1:g.107350572G>A GRCh37
NC_000007.12:g.107137808G>A NCBI36
NG_008489.1:g.54493G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.2163G>A MANE Select ENSP00000494017.1:p.Thr721=
ENST00000644846.1:c.819G>A
ENST00000265715.7:c.2163G>A ENSP00000265715.3:p.Thr721=
ENST00000492030.2:n.377-28G>A
NM_000441.1:c.2163G>A NP_000432.1:p.Thr721=
XM_005250425.1:c.2163G>A XP_005250482.1:p.Thr721=
XM_005250425.2:c.2163G>A XP_005250482.1:p.Thr721=
XM_017012318.1:c.2085G>A XP_016867807.1:p.Thr695=
NM_000441.2:c.2163G>A MANE Select NP_000432.1:p.Thr721=
Search 100 bp 5'
Search 100 bp 3'