Canonical Allele Identifier: CA261427

Gene: SLC26A4

Linked Data

• ClinVar Variation Id: 43542
• ClinVar RCV Id: RCV000036478 ; RCV002513383
• dbSNP Id: rs397516428
• MyVariant Identifiers: chr7:g.107350597C>T (hg19) ; chr7:g.107710152C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107710152C>T , CM000669.2:g.107710152C>T	GRCh38
NC_000007.13:g.107350597C>T , CM000669.1:g.107350597C>T	GRCh37
NC_000007.12:g.107137833C>T	NCBI36
NG_008489.1:g.54518C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644269.2:c.2188C>T MANE Select	ENSP00000494017.1:p.Gln730Ter
ENST00000644846.1:c.844C>T
ENST00000265715.7:c.2188C>T	ENSP00000265715.3:p.Gln730Ter
ENST00000492030.2:n.377-3C>T
NM_000441.1:c.2188C>T	NP_000432.1:p.Gln730Ter
XM_005250425.1:c.2188C>T	XP_005250482.1:p.Gln730Ter
XM_005250425.2:c.2188C>T	XP_005250482.1:p.Gln730Ter
XM_017012318.1:c.2110C>T	XP_016867807.1:p.Gln704Ter
NM_000441.2:c.2188C>T MANE Select	NP_000432.1:p.Gln730Ter