Canonical Allele Identifier: CA132705

Gene: SLC26A4

Linked Data

• ClinVar Variation Id: 43540
• ClinVar RCV Id: RCV000036475 ; RCV000671686 ; RCV000947056 ; RCV004534765
• dbSNP Id: rs143708308
• ExAC: 7:107350548 T / G
• gnomAD v2: 7-107350548-T-G
• gnomAD v3: 7-107710103-T-G
• gnomAD v4: 7-107710103-T-G
• MyVariant Identifiers: chr7:g.107350548T>G (hg19) ; chr7:g.107710103T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107710103T>G , CM000669.2:g.107710103T>G	GRCh38
NC_000007.13:g.107350548T>G , CM000669.1:g.107350548T>G	GRCh37
NC_000007.12:g.107137784T>G	NCBI36
NG_008489.1:g.54469T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644269.2:c.2139T>G MANE Select	ENSP00000494017.1:p.Ile713Met
ENST00000644846.1:c.795T>G
ENST00000265715.7:c.2139T>G	ENSP00000265715.3:p.Ile713Met
ENST00000492030.2:n.377-52T>G
NM_000441.1:c.2139T>G	NP_000432.1:p.Ile713Met
XM_005250425.1:c.2139T>G	XP_005250482.1:p.Ile713Met
XM_005250425.2:c.2139T>G	XP_005250482.1:p.Ile713Met
XM_017012318.1:c.2061T>G	XP_016867807.1:p.Ile687Met
NM_000441.2:c.2139T>G MANE Select	NP_000432.1:p.Ile713Met