Canonical Allele Identifier: CA831174323

Gene: SLC26A4

Linked Data

• ClinVar Variation Id: 2848710
• ClinVar RCV Id: RCV003695382
• dbSNP Id: rs1217823295
• MyVariant Identifiers: chr7:g.107323883C>T (hg19) ; chr7:g.107683438C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107683438C>T , CM000669.2:g.107683438C>T	GRCh38
NC_000007.13:g.107323883C>T , CM000669.1:g.107323883C>T	GRCh37
NC_000007.12:g.107111119C>T	NCBI36
NG_008489.1:g.27804C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644269.2:c.919-17C>T MANE Select	ENSP00000494017.1:n.919-17C>T
ENST00000265715.7:c.919-17C>T	ENSP00000265715.3:n.919-17C>T
NM_000441.1:c.919-17C>T	NP_000432.1:n.919-17C>T
XM_005250425.1:c.919-17C>T	XP_005250482.1:n.919-17C>T
XM_006716025.2:c.919-17C>T	XP_006716088.1:n.919-17C>T
XM_005250425.2:c.919-17C>T	XP_005250482.1:n.919-17C>T
XM_006716025.3:c.919-17C>T	XP_006716088.1:n.919-17C>T
XM_017012318.1:c.919-17C>T	XP_016867807.1:n.919-17C>T
NM_000441.2:c.919-17C>T MANE Select	NP_000432.1:n.919-17C>T