Canonical Allele Identifier: CA261403

Gene: SLC26A4

Linked Data

• ClinVar Variation Id: 43498
• ClinVar RCV Id: RCV000036430 ; RCV000268093 ; RCV000515696 ; RCV000576483 ; RCV000824770 ; RCV001291347
• dbSNP Id: rs111033220
• ExAC: 7:107330648 C / T
• gnomAD v2: 7-107330648-C-T
• gnomAD v3: 7-107690203-C-T
• gnomAD v4: 7-107690203-C-T
• COSMIC: COSM3381756
• MyVariant Identifiers: chr7:g.107330648C>T (hg19) ; chr7:g.107690203C>T (hg38)
• PubMed: PMID:9618167 ; PMID:10700480 ; PMID:11317356 ; PMID:11919333 ; PMID:11932316 ; PMID:12112665 ; PMID:12676893 ; PMID:15355436 ; PMID:15747138 ; PMID:15811013 ; PMID:15933521 ; PMID:16283880 ; PMID:16570074 ; PMID:16950989 ; PMID:17309986 ; PMID:17718863 ; PMID:19040761 ; PMID:19509082 ; PMID:19786220 ; PMID:21961810 ; PMID:24105851 ; PMID:24224479
• ERepo: CA261403/MONDO:0010134/005

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107690203C>T , CM000669.2:g.107690203C>T	GRCh38
NC_000007.13:g.107330648C>T , CM000669.1:g.107330648C>T	GRCh37
NC_000007.12:g.107117884C>T	NCBI36
NG_008489.1:g.34569C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000644269.2:c.1229C>T MANE Select	ENSP00000494017.1:p.Thr410Met
ENST00000265715.7:c.1229C>T	ENSP00000265715.3:p.Thr410Met
NM_000441.1:c.1229C>T	NP_000432.1:p.Thr410Met
XM_005250425.1:c.1229C>T	XP_005250482.1:p.Thr410Met
XM_006716025.2:c.1229C>T	XP_006716088.1:p.Thr410Met
XM_005250425.2:c.1229C>T	XP_005250482.1:p.Thr410Met
XM_006716025.3:c.1229C>T	XP_006716088.1:p.Thr410Met
XM_017012318.1:c.1229C>T	XP_016867807.1:p.Thr410Met
NM_000441.2:c.1229C>T MANE Select	NP_000432.1:p.Thr410Met