Canonical Allele Identifier: CA368844551

Gene: SLC26A4

Linked Data

• MyVariant Identifiers: chr7:g.107344827C>G (hg19) ; chr7:g.107704382C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107704382C>G , CM000669.2:g.107704382C>G	GRCh38
NC_000007.13:g.107344827C>G , CM000669.1:g.107344827C>G	GRCh37
NC_000007.12:g.107132063C>G	NCBI36
NG_008489.1:g.48748C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000644269.2:c.2086C>G MANE Select	ENSP00000494017.1:p.Gln696Glu
ENST00000644846.1:c.745+2325C>G
ENST00000265715.7:c.2086C>G	ENSP00000265715.3:p.Gln696Glu
ENST00000492030.2:n.373C>G
NM_000441.1:c.2086C>G	NP_000432.1:p.Gln696Glu
XM_005250425.1:c.2086C>G	XP_005250482.1:p.Gln696Glu
XM_005250425.2:c.2086C>G	XP_005250482.1:p.Gln696Glu
XM_017012318.1:c.2008C>G	XP_016867807.1:p.Gln670Glu
NM_000441.2:c.2086C>G MANE Select	NP_000432.1:p.Gln696Glu