Canonical Allele Identifier: CA369653915

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143048933G>A (hg19) ; chr7:g.143351840G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351840G>A , CM000669.2:g.143351840G>A	GRCh38
NC_000007.13:g.143048933G>A , CM000669.1:g.143048933G>A	GRCh37
NC_000007.12:g.142759055G>A	NCBI36
NG_009815.1:g.40715G>A
NG_009815.2:g.40715G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2842G>A	ENSP00000498052.2:p.Glu948Lys
ENST00000343257.7:c.2842G>A MANE Select	ENSP00000339867.2:p.Glu948Lys
ENST00000343257.6:c.2842G>A	ENSP00000339867.2:p.Glu948Lys
NM_000083.2:c.2842G>A	NP_000074.2:p.Glu948Lys
NR_046453.1:n.2782G>A
XM_011515781.1:c.2866G>A	XP_011514083.1:p.Glu956Lys
XM_011515782.1:c.1588G>A	XP_011514084.1:p.Glu530Lys
XM_011515782.2:c.1588G>A	XP_011514084.1:p.Glu530Lys
XM_017011739.1:c.2416G>A	XP_016867228.1:p.Glu806Lys
XM_017011740.1:c.2392G>A	XP_016867229.1:p.Glu798Lys
NM_000083.3:c.2842G>A MANE Select	NP_000074.3:p.Glu948Lys
NR_046453.2:n.2797G>A