Canonical Allele Identifier: CA177996

Gene: SLC26A4

Linked Data

• ClinVar Variation Id: 165253
• ClinVar RCV Id: RCV000151899 ; RCV000948786
• dbSNP Id: rs140918297
• ExAC: 7:107336410 C / T
• gnomAD v2: 7-107336410-C-T
• gnomAD v3: 7-107695965-C-T
• gnomAD v4: 7-107695965-C-T
• MyVariant Identifiers: chr7:g.107336410C>T (hg19) ; chr7:g.107695965C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107695965C>T , CM000669.2:g.107695965C>T	GRCh38
NC_000007.13:g.107336410C>T , CM000669.1:g.107336410C>T	GRCh37
NC_000007.12:g.107123646C>T	NCBI36
NG_008489.1:g.40331C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000644269.2:c.1470C>T MANE Select	ENSP00000494017.1:p.Ile490=
ENST00000644846.1:c.181C>T
ENST00000265715.7:c.1470C>T	ENSP00000265715.3:p.Ile490=
ENST00000477350.5:n.317C>T
ENST00000480841.5:n.319C>T
ENST00000497446.5:n.485C>T
NM_000441.1:c.1470C>T	NP_000432.1:p.Ile490=
XM_005250425.1:c.1470C>T	XP_005250482.1:p.Ile490=
XM_005250425.2:c.1470C>T	XP_005250482.1:p.Ile490=
XM_017012318.1:c.1392C>T	XP_016867807.1:p.Ile464=
NM_000441.2:c.1470C>T MANE Select	NP_000432.1:p.Ile490=