Canonical Allele Identifier: CA177998

Gene: SLC26A4

Linked Data

• ClinVar Variation Id: 165255
• ClinVar RCV Id: RCV000151900 ; RCV000835659 ; RCV001164802
• dbSNP Id: rs368970459
• ExAC: 7:107336493 C / T
• gnomAD v2: 7-107336493-C-T
• gnomAD v3: 7-107696048-C-T
• gnomAD v4: 7-107696048-C-T
• MyVariant Identifiers: chr7:g.107336493C>T (hg19) ; chr7:g.107696048C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107696048C>T , CM000669.2:g.107696048C>T	GRCh38
NC_000007.13:g.107336493C>T , CM000669.1:g.107336493C>T	GRCh37
NC_000007.12:g.107123729C>T	NCBI36
NG_008489.1:g.40414C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000644269.2:c.1544+9C>T MANE Select	ENSP00000494017.1:n.1544+9C>T
ENST00000644846.1:c.255+9C>T
ENST00000265715.7:c.1544+9C>T	ENSP00000265715.3:n.1544+9C>T
ENST00000477350.5:n.391+9C>T
ENST00000480841.5:n.393+9C>T
NM_000441.1:c.1544+9C>T	NP_000432.1:n.1544+9C>T
XM_005250425.1:c.1544+9C>T	XP_005250482.1:n.1544+9C>T
XM_005250425.2:c.1544+9C>T	XP_005250482.1:n.1544+9C>T
XM_017012318.1:c.1466+9C>T	XP_016867807.1:n.1466+9C>T
NM_000441.2:c.1544+9C>T MANE Select	NP_000432.1:n.1544+9C>T