Canonical Allele Identifier: CA831182260

Gene: SLC26A4

Linked Data

• dbSNP Id: rs1286450382
• gnomAD v4: 7-107694335-C-T
• MyVariant Identifiers: chr7:g.107334780C>T (hg19) ; chr7:g.107694335C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107694335C>T , CM000669.2:g.107694335C>T	GRCh38
NC_000007.13:g.107334780C>T , CM000669.1:g.107334780C>T	GRCh37
NC_000007.12:g.107122016C>T	NCBI36
NG_008489.1:g.38701C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000644269.2:c.1264-68C>T MANE Select	ENSP00000494017.1:n.1264-68C>T
ENST00000265715.7:c.1264-68C>T	ENSP00000265715.3:n.1264-68C>T
ENST00000460748.1:n.367-68C>T
ENST00000477350.5:n.189-286C>T
ENST00000480841.5:n.113-68C>T
ENST00000497446.5:n.279-68C>T
NM_000441.1:c.1264-68C>T	NP_000432.1:n.1264-68C>T
XM_005250425.1:c.1264-68C>T	XP_005250482.1:n.1264-68C>T
XM_006716025.2:c.*775C>T	XP_006716088.1:n.*775C>T
XM_005250425.2:c.1264-68C>T	XP_005250482.1:n.1264-68C>T
XM_006716025.3:c.*775C>T	XP_006716088.1:n.*775C>T
XM_017012318.1:c.1264-286C>T	XP_016867807.1:n.1264-286C>T
NM_000441.2:c.1264-68C>T MANE Select	NP_000432.1:n.1264-68C>T