Canonical Allele Identifier: CA369646825

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143039232T>A (hg19) ; chr7:g.143342139T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143342139T>A , CM000669.2:g.143342139T>A	GRCh38
NC_000007.13:g.143039232T>A , CM000669.1:g.143039232T>A	GRCh37
NC_000007.12:g.142749354T>A	NCBI36
NG_009815.1:g.31014T>A
NG_009815.2:g.31014T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1793T>A	ENSP00000498052.2:p.Leu598His
ENST00000343257.7:c.1793T>A MANE Select	ENSP00000339867.2:p.Leu598His
ENST00000432192.6:c.1617T>A
ENST00000343257.6:c.1793T>A	ENSP00000339867.2:p.Leu598His
NM_000083.2:c.1793T>A	NP_000074.2:p.Leu598His
NR_046453.1:n.1733T>A
XM_011515781.1:c.1817T>A	XP_011514083.1:p.Leu606His
XM_011515782.1:c.539T>A	XP_011514084.1:p.Leu180His
XM_011515782.2:c.539T>A	XP_011514084.1:p.Leu180His
XM_017011739.1:c.1367T>A	XP_016867228.1:p.Leu456His
XM_017011740.1:c.1343T>A	XP_016867229.1:p.Leu448His
NM_000083.3:c.1793T>A MANE Select	NP_000074.3:p.Leu598His
NR_046453.2:n.1748T>A