Canonical Allele Identifier: CA831175392

Gene: SLC26A4

Linked Data

• dbSNP Id: rs1473556915
• gnomAD v3: 7-107674284-CA-C
• gnomAD v4: 7-107674284-CA-C
• MyVariant Identifiers: chr7:g.107314730del (hg19) ; chr7:g.107674285del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107674285del , CM000669.2:g.107674285del	GRCh38
NC_000007.13:g.107314730del , CM000669.1:g.107314730del	GRCh37
NC_000007.12:g.107101966del	NCBI36
NG_008489.1:g.18651del

Transcript Alleles

HGVS	Amino-acid change
ENST00000644269.2:c.537del MANE Select	ENSP00000494017.1:p.Ala180LeufsTer8
ENST00000265715.7:c.537del	ENSP00000265715.3:p.Ala180LeufsTer8
NM_000441.1:c.537del	NP_000432.1:p.Ala180LeufsTer8
XM_005250425.1:c.537del	XP_005250482.1:p.Ala180LeufsTer8
XM_006716025.2:c.537del	XP_006716088.1:p.Ala180LeufsTer8
XM_005250425.2:c.537del	XP_005250482.1:p.Ala180LeufsTer8
XM_006716025.3:c.537del	XP_006716088.1:p.Ala180LeufsTer8
XM_017012318.1:c.537del	XP_016867807.1:p.Ala180LeufsTer8
NM_000441.2:c.537del MANE Select	NP_000432.1:p.Ala180LeufsTer8