Canonical Allele Identifier: CA4432643

Gene: SLC26A4

Linked Data

• ClinVar Variation Id: 370123
• ClinVar RCV Id: RCV000411285 ; RCV000728208
• dbSNP Id: rs80338849
• ExAC: 7:107323983 G / T
• gnomAD v2: 7-107323983-G-T
• gnomAD v3: 7-107683538-G-T
• gnomAD v4: 7-107683538-G-T
• MyVariant Identifiers: chr7:g.107323983G>T (hg19) ; chr7:g.107683538G>T (hg38)
• PubMed: PMID:18167283 ; PMID:25525159

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107683538G>T , CM000669.2:g.107683538G>T	GRCh38
NC_000007.13:g.107323983G>T , CM000669.1:g.107323983G>T	GRCh37
NC_000007.12:g.107111219G>T	NCBI36
NG_008489.1:g.27904G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000644269.2:c.1001+1G>T MANE Select	ENSP00000494017.1:n.1001+1G>T
ENST00000265715.7:c.1001+1G>T	ENSP00000265715.3:n.1001+1G>T
NM_000441.1:c.1001+1G>T	NP_000432.1:n.1001+1G>T
XM_005250425.1:c.1001+1G>T	XP_005250482.1:n.1001+1G>T
XM_006716025.2:c.1001+1G>T	XP_006716088.1:n.1001+1G>T
XM_005250425.2:c.1001+1G>T	XP_005250482.1:n.1001+1G>T
XM_006716025.3:c.1001+1G>T	XP_006716088.1:n.1001+1G>T
XM_017012318.1:c.1001+1G>T	XP_016867807.1:n.1001+1G>T
NM_000441.2:c.1001+1G>T MANE Select	NP_000432.1:n.1001+1G>T