Canonical Allele Identifier: CA253316

Gene: SLC26A4

Linked Data

• ClinVar Variation Id: 4842
• ClinVar RCV Id: RCV002291265
• dbSNP Id: rs111033212
• ExAC: 7:107329499 T / C
• gnomAD v2: 7-107329499-T-C
• gnomAD v3: 7-107689054-T-C
• gnomAD v4: 7-107689054-T-C
• MyVariant Identifiers: chr7:g.107329499T>C (hg19) ; chr7:g.107689054T>C (hg38)
• ERepo: CA253316/MONDO:0010134/005
• PubMed: PMID:11317356 ; PMID:14679580 ; PMID:15689455 ; PMID:16570074 ; PMID:16950989 ; PMID:17309986 ; PMID:17357124 ; PMID:17503324 ; PMID:18285825 ; PMID:19204907 ; PMID:19426954 ; PMID:19509082 ; PMID:20597900 ; PMID:20668687 ; PMID:23336812 ; PMID:23965030 ; PMID:24051746 ; PMID:25394566 ; PMID:26485571 ; PMID:27771369

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107689054T>C , CM000669.2:g.107689054T>C	GRCh38
NC_000007.13:g.107329499T>C , CM000669.1:g.107329499T>C	GRCh37
NC_000007.12:g.107116735T>C	NCBI36
NG_008489.1:g.33420T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000644269.2:c.1003T>C MANE Select	ENSP00000494017.1:p.Phe335Leu
ENST00000265715.7:c.1003T>C	ENSP00000265715.3:p.Phe335Leu
NM_000441.1:c.1003T>C	NP_000432.1:p.Phe335Leu
XM_005250425.1:c.1003T>C	XP_005250482.1:p.Phe335Leu
XM_006716025.2:c.1003T>C	XP_006716088.1:p.Phe335Leu
XM_005250425.2:c.1003T>C	XP_005250482.1:p.Phe335Leu
XM_006716025.3:c.1003T>C	XP_006716088.1:p.Phe335Leu
XM_017012318.1:c.1003T>C	XP_016867807.1:p.Phe335Leu
NM_000441.2:c.1003T>C MANE Select	NP_000432.1:p.Phe335Leu