Canonical Allele Identifier: CA368843394

Gene: SLC26A4

Linked Data

• MyVariant Identifiers: chr7:g.107342347C>T (hg19) ; chr7:g.107701902C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107701902C>T , CM000669.2:g.107701902C>T	GRCh38
NC_000007.13:g.107342347C>T , CM000669.1:g.107342347C>T	GRCh37
NC_000007.12:g.107129583C>T	NCBI36
NG_008489.1:g.46268C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644269.2:c.1879C>T MANE Select	ENSP00000494017.1:p.Leu627Phe
ENST00000644846.1:c.590C>T
ENST00000265715.7:c.1879C>T	ENSP00000265715.3:p.Leu627Phe
ENST00000492030.2:n.166C>T
NM_000441.1:c.1879C>T	NP_000432.1:p.Leu627Phe
XM_005250425.1:c.1879C>T	XP_005250482.1:p.Leu627Phe
XM_005250425.2:c.1879C>T	XP_005250482.1:p.Leu627Phe
XM_017012318.1:c.1801C>T	XP_016867807.1:p.Leu601Phe
NM_000441.2:c.1879C>T MANE Select	NP_000432.1:p.Leu627Phe