Canonical Allele Identifier: CA369683951

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143018560G>T (hg19) ; chr7:g.143321467G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321467G>T , CM000669.2:g.143321467G>T	GRCh38
NC_000007.13:g.143018560G>T , CM000669.1:g.143018560G>T	GRCh37
NC_000007.12:g.142728682G>T	NCBI36
NG_009815.1:g.10342G>T
NG_009815.2:g.10342G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.536G>T	ENSP00000498052.2:p.Cys179Phe
ENST00000343257.7:c.536G>T MANE Select	ENSP00000339867.2:p.Cys179Phe
ENST00000432192.6:c.304G>T
ENST00000650516.1:c.536G>T	ENSP00000498052.1:p.Cys179Phe
ENST00000343257.6:c.536G>T	ENSP00000339867.2:p.Cys179Phe
NM_000083.2:c.536G>T	NP_000074.2:p.Cys179Phe
NR_046453.1:n.623G>T
XM_011515781.1:c.536G>T	XP_011514083.1:p.Cys179Phe
XM_017011739.1:c.243G>T	XP_016867228.1:p.Leu81=
XM_017011740.1:c.243G>T	XP_016867229.1:p.Leu81=
NM_000083.3:c.536G>T MANE Select	NP_000074.3:p.Cys179Phe
NR_046453.2:n.638G>T