Canonical Allele Identifier: CA369654335

Gene: CLCN1

Linked Data

• COSMIC: COSM3922965
• MyVariant Identifiers: chr7:g.143049044G>A (hg19) ; chr7:g.143351951G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351951G>A , CM000669.2:g.143351951G>A	GRCh38
NC_000007.13:g.143049044G>A , CM000669.1:g.143049044G>A	GRCh37
NC_000007.12:g.142759166G>A	NCBI36
NG_009815.1:g.40826G>A
NG_009815.2:g.40826G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2953G>A	ENSP00000498052.2:p.Glu985Lys
ENST00000343257.7:c.2953G>A MANE Select	ENSP00000339867.2:p.Glu985Lys
ENST00000343257.6:c.2953G>A	ENSP00000339867.2:p.Glu985Lys
NM_000083.2:c.2953G>A	NP_000074.2:p.Glu985Lys
NR_046453.1:n.2893G>A
XM_011515781.1:c.2977G>A	XP_011514083.1:p.Glu993Lys
XM_011515782.1:c.1699G>A	XP_011514084.1:p.Glu567Lys
XM_011515782.2:c.1699G>A	XP_011514084.1:p.Glu567Lys
XM_017011739.1:c.2527G>A	XP_016867228.1:p.Glu843Lys
XM_017011740.1:c.2503G>A	XP_016867229.1:p.Glu835Lys
NM_000083.3:c.2953G>A MANE Select	NP_000074.3:p.Glu985Lys
NR_046453.2:n.2908G>A