Canonical Allele Identifier: CA369654308

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143049037T>G (hg19) ; chr7:g.143351944T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351944T>G , CM000669.2:g.143351944T>G	GRCh38
NC_000007.13:g.143049037T>G , CM000669.1:g.143049037T>G	GRCh37
NC_000007.12:g.142759159T>G	NCBI36
NG_009815.1:g.40819T>G
NG_009815.2:g.40819T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2946T>G	ENSP00000498052.2:p.Asp982Glu
ENST00000343257.7:c.2946T>G MANE Select	ENSP00000339867.2:p.Asp982Glu
ENST00000343257.6:c.2946T>G	ENSP00000339867.2:p.Asp982Glu
NM_000083.2:c.2946T>G	NP_000074.2:p.Asp982Glu
NR_046453.1:n.2886T>G
XM_011515781.1:c.2970T>G	XP_011514083.1:p.Asp990Glu
XM_011515782.1:c.1692T>G	XP_011514084.1:p.Asp564Glu
XM_011515782.2:c.1692T>G	XP_011514084.1:p.Asp564Glu
XM_017011739.1:c.2520T>G	XP_016867228.1:p.Asp840Glu
XM_017011740.1:c.2496T>G	XP_016867229.1:p.Asp832Glu
NM_000083.3:c.2946T>G MANE Select	NP_000074.3:p.Asp982Glu
NR_046453.2:n.2901T>G