Canonical Allele Identifier: CA368842884

Gene: SLC26A4

Linked Data

• MyVariant Identifiers: chr7:g.107341578G>T (hg19) ; chr7:g.107701133G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107701133G>T , CM000669.2:g.107701133G>T	GRCh38
NC_000007.13:g.107341578G>T , CM000669.1:g.107341578G>T	GRCh37
NC_000007.12:g.107128814G>T	NCBI36
NG_008489.1:g.45499G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000644269.2:c.1740G>T MANE Select	ENSP00000494017.1:p.Lys580Asn
ENST00000644846.1:c.451G>T
ENST00000265715.7:c.1740G>T	ENSP00000265715.3:p.Lys580Asn
ENST00000480841.5:n.589G>T
ENST00000492030.2:n.91-694G>T
NM_000441.1:c.1740G>T	NP_000432.1:p.Lys580Asn
XM_005250425.1:c.1740G>T	XP_005250482.1:p.Lys580Asn
XM_005250425.2:c.1740G>T	XP_005250482.1:p.Lys580Asn
XM_017012318.1:c.1662G>T	XP_016867807.1:p.Lys554Asn
NM_000441.2:c.1740G>T MANE Select	NP_000432.1:p.Lys580Asn