Canonical Allele Identifier: CA369652442

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143346947G>T , CM000669.2:g.143346947G>T	GRCh38
NC_000007.13:g.143044040G>T , CM000669.1:g.143044040G>T	GRCh37
NC_000007.12:g.142754162G>T	NCBI36
NG_009815.1:g.35822G>T
NG_009815.2:g.35822G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2401G>T	ENSP00000498052.2:p.Glu801Ter
ENST00000343257.7:c.2401G>T MANE Select	ENSP00000339867.2:p.Glu801Ter
ENST00000432192.6:c.2225G>T
ENST00000343257.6:c.2401G>T	ENSP00000339867.2:p.Glu801Ter
NM_000083.2:c.2401G>T	NP_000074.2:p.Glu801Ter
NR_046453.1:n.2341G>T
XM_011515781.1:c.2425G>T	XP_011514083.1:p.Glu809Ter
XM_011515782.1:c.1147G>T	XP_011514084.1:p.Glu383Ter
XM_011515782.2:c.1147G>T	XP_011514084.1:p.Glu383Ter
XM_017011739.1:c.1975G>T	XP_016867228.1:p.Glu659Ter
XM_017011740.1:c.1951G>T	XP_016867229.1:p.Glu651Ter
NM_000083.3:c.2401G>T MANE Select	NP_000074.3:p.Glu801Ter
NR_046453.2:n.2356G>T