Canonical Allele Identifier: CA132727

Gene: SLC26A4

Linked Data

• ClinVar Variation Id: 43555
• ClinVar RCV Id: RCV000036491 ; RCV000225014 ; RCV000225040 ; RCV000225082 ; RCV000757776 ; RCV001823104 ; RCV002504887 ; RCV003407405
• dbSNP Id: rs145254330
• ExAC: 7:107312627 C / T
• gnomAD v2: 7-107312627-C-T
• gnomAD v3: 7-107672182-C-T
• gnomAD v4: 7-107672182-C-T
• MyVariant Identifiers: chr7:g.107312627C>T (hg19) ; chr7:g.107672182C>T (hg38)
• ERepo: CA132727/MONDO:0010134/005
• PubMed: PMID:10700480 ; PMID:11932316 ; PMID:14508505 ; PMID:16570074 ; PMID:16950989 ; PMID:26969326

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107672182C>T , CM000669.2:g.107672182C>T	GRCh38
NC_000007.13:g.107312627C>T , CM000669.1:g.107312627C>T	GRCh37
NC_000007.12:g.107099863C>T	NCBI36
NG_008489.1:g.16548C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000644269.2:c.349C>T MANE Select	ENSP00000494017.1:p.Leu117Phe
ENST00000265715.7:c.349C>T	ENSP00000265715.3:p.Leu117Phe
ENST00000440056.1:c.349C>T	ENSP00000394760.1:p.Leu117Phe
NM_000441.1:c.349C>T	NP_000432.1:p.Leu117Phe
XM_005250425.1:c.349C>T	XP_005250482.1:p.Leu117Phe
XM_006716025.2:c.349C>T	XP_006716088.1:p.Leu117Phe
XM_005250425.2:c.349C>T	XP_005250482.1:p.Leu117Phe
XM_006716025.3:c.349C>T	XP_006716088.1:p.Leu117Phe
XM_017012318.1:c.349C>T	XP_016867807.1:p.Leu117Phe
NM_000441.2:c.349C>T MANE Select	NP_000432.1:p.Leu117Phe