Canonical Allele Identifier: CA913184817

Gene: SLC26A4

Linked Data

• ClinVar Variation Id: 4815
• ClinVar RCV Id: RCV000005084
• dbSNP Id: rs1584317722

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107683353del , CM000669.2:g.107683353del	GRCh38
NC_000007.13:g.107323798del , CM000669.1:g.107323798del	GRCh37
NC_000007.12:g.107111034del	NCBI36
NG_008489.1:g.27719del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644269.2:c.917del MANE Select	ENSP00000494017.1:p.Val306GlyfsTer3
ENST00000265715.7:c.917del	ENSP00000265715.3:p.Val306GlyfsTer3
NM_000441.1:c.917del	NP_000432.1:p.Val306GlyfsTer3
XM_005250425.1:c.917del	XP_005250482.1:p.Val306GlyfsTer3
XM_006716025.2:c.917del	XP_006716088.1:p.Val306GlyfsTer3
XM_005250425.2:c.917del	XP_005250482.1:p.Val306GlyfsTer3
XM_006716025.3:c.917del	XP_006716088.1:p.Val306GlyfsTer3
XM_017012318.1:c.917del	XP_016867807.1:p.Val306GlyfsTer3
NM_000441.2:c.917del MANE Select	NP_000432.1:p.Val306GlyfsTer3