Canonical Allele Identifier: CA457095939

Gene: SLC26A4

Linked Data

• ClinVar Variation Id: 2100848
• ClinVar RCV Id: RCV003025984
• dbSNP Id: rs1417127871
• gnomAD v2: 7-107336407-C-T
• gnomAD v4: 7-107695962-C-T
• MyVariant Identifiers: chr7:g.107336407C>T (hg19) ; chr7:g.107695962C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107695962C>T , CM000669.2:g.107695962C>T	GRCh38
NC_000007.13:g.107336407C>T , CM000669.1:g.107336407C>T	GRCh37
NC_000007.12:g.107123643C>T	NCBI36
NG_008489.1:g.40328C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000644269.2:c.1467C>T MANE Select	ENSP00000494017.1:p.Ser489=
ENST00000644846.1:c.178C>T
ENST00000265715.7:c.1467C>T	ENSP00000265715.3:p.Ser489=
ENST00000460748.1:n.570C>T
ENST00000477350.5:n.314C>T
ENST00000480841.5:n.316C>T
ENST00000497446.5:n.482C>T
NM_000441.1:c.1467C>T	NP_000432.1:p.Ser489=
XM_005250425.1:c.1467C>T	XP_005250482.1:p.Ser489=
XM_005250425.2:c.1467C>T	XP_005250482.1:p.Ser489=
XM_017012318.1:c.1389C>T	XP_016867807.1:p.Ser463=
NM_000441.2:c.1467C>T MANE Select	NP_000432.1:p.Ser489=