Canonical Allele Identifier: CA369653971

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143048946A>T (hg19) ; chr7:g.143351853A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351853A>T , CM000669.2:g.143351853A>T	GRCh38
NC_000007.13:g.143048946A>T , CM000669.1:g.143048946A>T	GRCh37
NC_000007.12:g.142759068A>T	NCBI36
NG_009815.1:g.40728A>T
NG_009815.2:g.40728A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2855A>T	ENSP00000498052.2:p.Glu952Val
ENST00000343257.7:c.2855A>T MANE Select	ENSP00000339867.2:p.Glu952Val
ENST00000343257.6:c.2855A>T	ENSP00000339867.2:p.Glu952Val
NM_000083.2:c.2855A>T	NP_000074.2:p.Glu952Val
NR_046453.1:n.2795A>T
XM_011515781.1:c.2879A>T	XP_011514083.1:p.Glu960Val
XM_011515782.1:c.1601A>T	XP_011514084.1:p.Glu534Val
XM_011515782.2:c.1601A>T	XP_011514084.1:p.Glu534Val
XM_017011739.1:c.2429A>T	XP_016867228.1:p.Glu810Val
XM_017011740.1:c.2405A>T	XP_016867229.1:p.Glu802Val
NM_000083.3:c.2855A>T MANE Select	NP_000074.3:p.Glu952Val
NR_046453.2:n.2810A>T