Canonical Allele Identifier: CA132713

Gene: SLC26A4

Linked Data

• ClinVar Variation Id: 43546
• ClinVar RCV Id: RCV000036482 ; RCV000289695 ; RCV000346954 ; RCV000764681 ; RCV001460836
• dbSNP Id: rs150597240
• ExAC: 7:107353039 C / T
• gnomAD v2: 7-107353039-C-T
• gnomAD v3: 7-107712594-C-T
• gnomAD v4: 7-107712594-C-T
• MyVariant Identifiers: chr7:g.107353039C>T (hg19) ; chr7:g.107712594C>T (hg38)
• ERepo: CA132713/MONDO:0010134/005

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107712594C>T , CM000669.2:g.107712594C>T	GRCh38
NC_000007.13:g.107353039C>T , CM000669.1:g.107353039C>T	GRCh37
NC_000007.12:g.107140275C>T	NCBI36
NG_008489.1:g.56960C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000644269.2:c.2291C>T MANE Select	ENSP00000494017.1:p.Thr764Met
ENST00000644846.1:c.947C>T
ENST00000265715.7:c.2291C>T	ENSP00000265715.3:p.Thr764Met
ENST00000492030.2:n.477C>T
NM_000441.1:c.2291C>T	NP_000432.1:p.Thr764Met
XM_005250425.1:c.2291C>T	XP_005250482.1:p.Thr764Met
XM_005250425.2:c.2291C>T	XP_005250482.1:p.Thr764Met
XM_017012318.1:c.2213C>T	XP_016867807.1:p.Thr738Met
NM_000441.2:c.2291C>T MANE Select	NP_000432.1:p.Thr764Met