Canonical Allele Identifier: CA4432828

Gene: SLC26A4

Linked Data

• ClinVar Variation Id: 554960
• ClinVar RCV Id: RCV000670687 ; RCV001855545
• dbSNP Id: rs370029782
• ExAC: 7:107336394 C / T
• gnomAD v2: 7-107336394-C-T
• gnomAD v3: 7-107695949-C-T
• gnomAD v4: 7-107695949-C-T
• COSMIC: COSM1447155
• MyVariant Identifiers: chr7:g.107336394C>T (hg19) ; chr7:g.107695949C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107695949C>T , CM000669.2:g.107695949C>T	GRCh38
NC_000007.13:g.107336394C>T , CM000669.1:g.107336394C>T	GRCh37
NC_000007.12:g.107123630C>T	NCBI36
NG_008489.1:g.40315C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000644269.2:c.1454C>T MANE Select	ENSP00000494017.1:p.Thr485Met
ENST00000644846.1:c.165C>T
ENST00000265715.7:c.1454C>T	ENSP00000265715.3:p.Thr485Met
ENST00000460748.1:n.557C>T
ENST00000477350.5:n.301C>T
ENST00000480841.5:n.303C>T
ENST00000497446.5:n.469C>T
NM_000441.1:c.1454C>T	NP_000432.1:p.Thr485Met
XM_005250425.1:c.1454C>T	XP_005250482.1:p.Thr485Met
XM_005250425.2:c.1454C>T	XP_005250482.1:p.Thr485Met
XM_017012318.1:c.1376C>T	XP_016867807.1:p.Thr459Met
NM_000441.2:c.1454C>T MANE Select	NP_000432.1:p.Thr485Met