Canonical Allele Identifier: CA458283337

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143039092T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143341999T>C , CM000669.2:g.143341999T>C	GRCh38
NC_000007.13:g.143039092T>C , CM000669.1:g.143039092T>C	GRCh37
NC_000007.12:g.142749214T>C	NCBI36
NG_009815.1:g.30874T>C
NG_009815.2:g.30874T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1653T>C	ENSP00000498052.2:p.Gly551=
ENST00000343257.7:c.1653T>C MANE Select	ENSP00000339867.2:p.Gly551=
ENST00000432192.6:c.1477T>C
ENST00000343257.6:c.1653T>C	ENSP00000339867.2:p.Gly551=
NM_000083.2:c.1653T>C	NP_000074.2:p.Gly551=
NR_046453.1:n.1593T>C
XM_011515781.1:c.1677T>C	XP_011514083.1:p.Gly559=
XM_011515782.1:c.399T>C	XP_011514084.1:p.Gly133=
XM_011515782.2:c.399T>C	XP_011514084.1:p.Gly133=
XM_017011739.1:c.1227T>C	XP_016867228.1:p.Gly409=
XM_017011740.1:c.1203T>C	XP_016867229.1:p.Gly401=
NM_000083.3:c.1653T>C MANE Select	NP_000074.3:p.Gly551=
NR_046453.2:n.1608T>C