Canonical Allele Identifier: CA369683893

Gene: CLCN1

Linked Data

• dbSNP Id: rs1267764190
• MyVariant Identifiers: chr7:g.143018554T>A (hg19) ; chr7:g.143321461T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321461T>A , CM000669.2:g.143321461T>A	GRCh38
NC_000007.13:g.143018554T>A , CM000669.1:g.143018554T>A	GRCh37
NC_000007.12:g.142728676T>A	NCBI36
NG_009815.1:g.10336T>A
NG_009815.2:g.10336T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.530T>A	ENSP00000498052.2:p.Leu177His
ENST00000343257.7:c.530T>A MANE Select	ENSP00000339867.2:p.Leu177His
ENST00000432192.6:c.298T>A
ENST00000650516.1:c.530T>A	ENSP00000498052.1:p.Leu177His
ENST00000343257.6:c.530T>A	ENSP00000339867.2:p.Leu177His
NM_000083.2:c.530T>A	NP_000074.2:p.Leu177His
NR_046453.1:n.617T>A
XM_011515781.1:c.530T>A	XP_011514083.1:p.Leu177His
XM_017011739.1:c.237T>A	XP_016867228.1:p.Pro79=
XM_017011740.1:c.237T>A	XP_016867229.1:p.Pro79=
NM_000083.3:c.530T>A MANE Select	NP_000074.3:p.Leu177His
NR_046453.2:n.632T>A