Canonical Allele Identifier: CA1732755304

Gene: SLC26A4

Linked Data

• ClinVar Variation Id: 2877220
• ClinVar RCV Id: RCV003712777
• dbSNP Id: rs375788037
• gnomAD v4: 7-107715418-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107715418C>T , CM000669.2:g.107715418C>T	GRCh38
NC_000007.13:g.107355863C>T , CM000669.1:g.107355863C>T	GRCh37
NC_000007.12:g.107143099C>T	NCBI36
NG_008489.1:g.59784C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000644269.2:c.2320-5C>T MANE Select	ENSP00000494017.1:n.2320-5C>T
ENST00000644846.1:c.976-5C>T
ENST00000265715.7:c.2320-5C>T	ENSP00000265715.3:n.2320-5C>T
ENST00000492030.2:n.506-5C>T
NM_000441.1:c.2320-5C>T	NP_000432.1:n.2320-5C>T
XM_005250425.1:c.2320-5C>T	XP_005250482.1:n.2320-5C>T
XM_005250425.2:c.2320-5C>T	XP_005250482.1:n.2320-5C>T
XM_017012318.1:c.2242-5C>T	XP_016867807.1:n.2242-5C>T
NM_000441.2:c.2320-5C>T MANE Select	NP_000432.1:n.2320-5C>T