Canonical Allele Identifier: CA4432639

Gene: SLC26A4

Linked Data

• ClinVar Variation Id: 1153220
• ClinVar RCV Id: RCV001494834 ; RCV002495748
• dbSNP Id: rs770874403
• ExAC: 7:107323971 C / T
• gnomAD v2: 7-107323971-C-T
• gnomAD v3: 7-107683526-C-T
• gnomAD v4: 7-107683526-C-T
• COSMIC: COSM4514928
• MyVariant Identifiers: chr7:g.107323971C>T (hg19) ; chr7:g.107683526C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107683526C>T , CM000669.2:g.107683526C>T	GRCh38
NC_000007.13:g.107323971C>T , CM000669.1:g.107323971C>T	GRCh37
NC_000007.12:g.107111207C>T	NCBI36
NG_008489.1:g.27892C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644269.2:c.990C>T MANE Select	ENSP00000494017.1:p.Ser330=
ENST00000265715.7:c.990C>T	ENSP00000265715.3:p.Ser330=
NM_000441.1:c.990C>T	NP_000432.1:p.Ser330=
XM_005250425.1:c.990C>T	XP_005250482.1:p.Ser330=
XM_006716025.2:c.990C>T	XP_006716088.1:p.Ser330=
XM_005250425.2:c.990C>T	XP_005250482.1:p.Ser330=
XM_006716025.3:c.990C>T	XP_006716088.1:p.Ser330=
XM_017012318.1:c.990C>T	XP_016867807.1:p.Ser330=
NM_000441.2:c.990C>T MANE Select	NP_000432.1:p.Ser330=