Canonical Allele Identifier: CA368844557

Gene: SLC26A4

Linked Data

• gnomAD v4: 7-107704383-A-T
• MyVariant Identifiers: chr7:g.107344828A>T (hg19) ; chr7:g.107704383A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107704383A>T , CM000669.2:g.107704383A>T	GRCh38
NC_000007.13:g.107344828A>T , CM000669.1:g.107344828A>T	GRCh37
NC_000007.12:g.107132064A>T	NCBI36
NG_008489.1:g.48749A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000644269.2:c.2087A>T MANE Select	ENSP00000494017.1:p.Gln696Leu
ENST00000644846.1:c.745+2326A>T
ENST00000265715.7:c.2087A>T	ENSP00000265715.3:p.Gln696Leu
ENST00000492030.2:n.374A>T
NM_000441.1:c.2087A>T	NP_000432.1:p.Gln696Leu
XM_005250425.1:c.2087A>T	XP_005250482.1:p.Gln696Leu
XM_005250425.2:c.2087A>T	XP_005250482.1:p.Gln696Leu
XM_017012318.1:c.2009A>T	XP_016867807.1:p.Gln670Leu
NM_000441.2:c.2087A>T MANE Select	NP_000432.1:p.Gln696Leu