Canonical Allele Identifier: CA458542312

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143048722G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351629G>C , CM000669.2:g.143351629G>C	GRCh38
NC_000007.13:g.143048722G>C , CM000669.1:g.143048722G>C	GRCh37
NC_000007.12:g.142758844G>C	NCBI36
NG_009815.1:g.40504G>C
NG_009815.2:g.40504G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2631G>C	ENSP00000498052.2:p.Gly877=
ENST00000343257.7:c.2631G>C MANE Select	ENSP00000339867.2:p.Gly877=
ENST00000432192.6:c.2455G>C
ENST00000343257.6:c.2631G>C	ENSP00000339867.2:p.Gly877=
NM_000083.2:c.2631G>C	NP_000074.2:p.Gly877=
NR_046453.1:n.2571G>C
XM_011515781.1:c.2655G>C	XP_011514083.1:p.Gly885=
XM_011515782.1:c.1377G>C	XP_011514084.1:p.Gly459=
XM_011515782.2:c.1377G>C	XP_011514084.1:p.Gly459=
XM_017011739.1:c.2205G>C	XP_016867228.1:p.Gly735=
XM_017011740.1:c.2181G>C	XP_016867229.1:p.Gly727=
NM_000083.3:c.2631G>C MANE Select	NP_000074.3:p.Gly877=
NR_046453.2:n.2586G>C