Canonical Allele Identifier: CA1748889627

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143332444A= , CM000669.2:g.143332444A=	GRCh38
NC_000007.13:g.143029537A= , CM000669.1:g.143029537A=	GRCh37
NC_000007.12:g.142739659A=	NCBI36
NG_009815.1:g.21319A=
NG_009815.2:g.21319A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1192A=	ENSP00000498052.2:p.Thr398=
ENST00000343257.7:c.1192A= MANE Select	ENSP00000339867.2:p.Thr398=
ENST00000432192.6:c.1016A=
ENST00000343257.6:c.1192A=	ENSP00000339867.2:p.Thr398=
NM_000083.2:c.1192A=	NP_000074.2:p.Thr398=
NR_046453.1:n.1282A=
XM_011515781.1:c.1192A=	XP_011514083.1:p.Thr398=
XM_011515782.1:c.-3-280A=	XP_011514084.1:n.-3-280A=
XM_011515782.2:c.-3-280A=	XP_011514084.1:n.-3-280A=
XM_017011739.1:c.742A=	XP_016867228.1:p.Thr248=
XM_017011740.1:c.742A=	XP_016867229.1:p.Thr248=
NM_000083.3:c.1192A= MANE Select	NP_000074.3:p.Thr398=
NR_046453.2:n.1297A=