Canonical Allele Identifier: CA369646745

Gene: CLCN1

Linked Data

• gnomAD v4: 7-143342117-C-T
• MyVariant Identifiers: chr7:g.143039210C>T (hg19) ; chr7:g.143342117C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143342117C>T , CM000669.2:g.143342117C>T	GRCh38
NC_000007.13:g.143039210C>T , CM000669.1:g.143039210C>T	GRCh37
NC_000007.12:g.142749332C>T	NCBI36
NG_009815.1:g.30992C>T
NG_009815.2:g.30992C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1771C>T	ENSP00000498052.2:p.Pro591Ser
ENST00000343257.7:c.1771C>T MANE Select	ENSP00000339867.2:p.Pro591Ser
ENST00000432192.6:c.1595C>T
ENST00000343257.6:c.1771C>T	ENSP00000339867.2:p.Pro591Ser
NM_000083.2:c.1771C>T	NP_000074.2:p.Pro591Ser
NR_046453.1:n.1711C>T
XM_011515781.1:c.1795C>T	XP_011514083.1:p.Pro599Ser
XM_011515782.1:c.517C>T	XP_011514084.1:p.Pro173Ser
XM_011515782.2:c.517C>T	XP_011514084.1:p.Pro173Ser
XM_017011739.1:c.1345C>T	XP_016867228.1:p.Pro449Ser
XM_017011740.1:c.1321C>T	XP_016867229.1:p.Pro441Ser
NM_000083.3:c.1771C>T MANE Select	NP_000074.3:p.Pro591Ser
NR_046453.2:n.1726C>T