Canonical Allele Identifier: CA1748881690

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321742T= , CM000669.2:g.143321742T=	GRCh38
NC_000007.13:g.143018835T= , CM000669.1:g.143018835T=	GRCh37
NC_000007.12:g.142728957T=	NCBI36
NG_009815.1:g.10617T=
NG_009815.2:g.10617T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.590T=	ENSP00000498052.2:p.Ile197=
ENST00000343257.7:c.590T= MANE Select	ENSP00000339867.2:p.Ile197=
ENST00000432192.6:c.358T=
ENST00000455478.6:c.44T=	ENSP00000400027.2:p.Ile15=
ENST00000650516.1:c.590T=	ENSP00000498052.1:p.Ile197=
ENST00000343257.6:c.590T=	ENSP00000339867.2:p.Ile197=
ENST00000432192.5:c.48T=
ENST00000455478.5:c.48T=
ENST00000495612.1:n.48T=
NM_000083.2:c.590T=	NP_000074.2:p.Ile197=
NR_046453.1:n.677T=
XM_011515781.1:c.590T=	XP_011514083.1:p.Ile197=
XM_017011739.1:c.297T=	XP_016867228.1:p.Asn99=
XM_017011740.1:c.297T=	XP_016867229.1:p.Asn99=
NM_000083.3:c.590T= MANE Select	NP_000074.3:p.Ile197=
NR_046453.2:n.692T=