Canonical Allele Identifier: CA168214377

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143332769T>C , CM000669.2:g.143332769T>C	GRCh38
NC_000007.13:g.143029862T>C , CM000669.1:g.143029862T>C	GRCh37
NC_000007.12:g.142739984T>C	NCBI36
NG_009815.1:g.21644T>C
NG_009815.2:g.21644T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000083.3:c.1297T>C MANE Select	NP_000074.3:p.Trp433Arg
ENST00000343257.7:c.1297T>C MANE Select	ENSP00000339867.2:p.Trp433Arg
NM_000083.2:c.1297T>C	NP_000074.2:p.Trp433Arg
NR_046453.1:n.1341+266T>C
NR_046453.2:n.1356+266T>C
ENST00000343257.6:c.1297T>C	ENSP00000339867.2:p.Trp433Arg
ENST00000432192.6:c.1121T>C
ENST00000650516.2:c.1297T>C	ENSP00000498052.2:p.Trp433Arg
XM_011515781.1:c.1321T>C	XP_011514083.1:p.Trp441Arg
XM_011515782.1:c.43T>C	XP_011514084.1:p.Trp15Arg
XM_011515782.2:c.43T>C	XP_011514084.1:p.Trp15Arg
XM_017011739.1:c.871T>C	XP_016867228.1:p.Trp291Arg
XM_017011740.1:c.847T>C	XP_016867229.1:p.Trp283Arg