Canonical Allele Identifier: CA369645355

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143339289C>T , CM000669.2:g.143339289C>T	GRCh38
NC_000007.13:g.143036382C>T , CM000669.1:g.143036382C>T	GRCh37
NC_000007.12:g.142746504C>T	NCBI36
NG_009815.1:g.28164C>T
NG_009815.2:g.28164C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000083.3:c.1438C>T MANE Select	NP_000074.3:p.Pro480Ser
ENST00000343257.7:c.1438C>T MANE Select	ENSP00000339867.2:p.Pro480Ser
NM_000083.2:c.1438C>T	NP_000074.2:p.Pro480Ser
NR_046453.1:n.1378C>T
NR_046453.2:n.1393C>T
ENST00000343257.6:c.1438C>T	ENSP00000339867.2:p.Pro480Ser
ENST00000432192.6:c.1262C>T
ENST00000650516.2:c.1438C>T	ENSP00000498052.2:p.Pro480Ser
XM_011515781.1:c.1462C>T	XP_011514083.1:p.Pro488Ser
XM_011515782.1:c.184C>T	XP_011514084.1:p.Pro62Ser
XM_011515782.2:c.184C>T	XP_011514084.1:p.Pro62Ser
XM_017011739.1:c.1012C>T	XP_016867228.1:p.Pro338Ser
XM_017011740.1:c.988C>T	XP_016867229.1:p.Pro330Ser