Canonical Allele Identifier: CA4805554

Gene: SLC26A7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.91366589C>T , CM000670.2:g.91366589C>T	GRCh38
NC_000008.10:g.92378817C>T , CM000670.1:g.92378817C>T	GRCh37
NC_000008.9:g.92447993C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_052832.4:c.1498C>T MANE Select	NP_439897.1:p.Gln500Ter
ENST00000276609.8:c.1498C>T MANE Select	ENSP00000276609.3:p.Gln500Ter
NM_001282356.1:c.1498C>T	NP_001269285.1:p.Gln500Ter
NM_001282356.2:c.1498C>T	NP_001269285.1:p.Gln500Ter
NM_001282357.1:c.595C>T	NP_001269286.1:p.Gln199Ter
NM_001282357.2:c.595C>T	NP_001269286.1:p.Gln199Ter
NM_052832.3:c.1498C>T	NP_439897.1:p.Gln500Ter
NM_134266.1:c.1498C>T	NP_599028.1:p.Gln500Ter
NM_134266.2:c.1498C>T	NP_599028.1:p.Gln500Ter
ENST00000276609.7:c.1498C>T	ENSP00000276609.3:p.Gln500Ter
ENST00000309536.6:c.1498C>T	ENSP00000309504.2:p.Gln500Ter
ENST00000517930.1:n.263C>T
ENST00000520249.5:n.626C>T
ENST00000522181.5:c.*605C>T	ENSP00000427712.1:n.*605C>T
ENST00000523719.5:c.1498C>T	ENSP00000428849.1:p.Gln500Ter
ENST00000617078.3:c.595C>T	ENSP00000482686.1:p.Gln199Ter
ENST00000617233.2:c.1498C>T	ENSP00000482549.1:p.Gln500Ter