Canonical Allele Identifier: CA4432371

Gene: SLC26A4 SLC26A4-AS1

Linked Data

• ClinVar Variation Id: 371369
• ClinVar RCV Id: RCV000409402 ; RCV000797602
• dbSNP Id: rs201636911
• ExAC: 7:107302228 G / T
• gnomAD v3: 7-107661783-G-T
• gnomAD v4: 7-107661783-G-T
• MyVariant Identifiers: chr7:g.107302228G>T (hg19) ; chr7:g.107661783G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107661783G>T , CM000669.2:g.107661783G>T	GRCh38
NC_000007.13:g.107302228G>T , CM000669.1:g.107302228G>T	GRCh37
NC_000007.12:g.107089464G>T	NCBI36
NG_008489.1:g.6149G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000644269.2:c.142G>T (SLC26A4) MANE Select	ENSP00000494017.1:p.Glu48Ter
ENST00000265715.7:c.142G>T (SLC26A4)	ENSP00000265715.3:p.Glu48Ter
ENST00000440056.1:c.142G>T (SLC26A4)	ENSP00000394760.1:p.Glu48Ter
NM_000441.1:c.142G>T (SLC26A4)	NP_000432.1:p.Glu48Ter
NR_028137.1:n.16C>A (SLC26A4-AS1)
XM_005250425.1:c.142G>T (SLC26A4)	XP_005250482.1:p.Glu48Ter
XM_006716025.2:c.142G>T (SLC26A4)	XP_006716088.1:p.Glu48Ter
XM_005250425.2:c.142G>T (SLC26A4)	XP_005250482.1:p.Glu48Ter
XM_006716025.3:c.142G>T (SLC26A4)	XP_006716088.1:p.Glu48Ter
XM_017012318.1:c.142G>T (SLC26A4)	XP_016867807.1:p.Glu48Ter
NM_000441.2:c.142G>T (SLC26A4) MANE Select	NP_000432.1:p.Glu48Ter