Canonical Allele Identifier: CA369646645

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 1425513
• ClinVar RCV Id: RCV001926699
• dbSNP Id: rs143825889
• MyVariant Identifiers: chr7:g.143039166C>T (hg19) ; chr7:g.143342073C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143342073C>T , CM000669.2:g.143342073C>T	GRCh38
NC_000007.13:g.143039166C>T , CM000669.1:g.143039166C>T	GRCh37
NC_000007.12:g.142749288C>T	NCBI36
NG_009815.1:g.30948C>T
NG_009815.2:g.30948C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1727C>T	ENSP00000498052.2:p.Ser576Phe
ENST00000343257.7:c.1727C>T MANE Select	ENSP00000339867.2:p.Ser576Phe
ENST00000432192.6:c.1551C>T
ENST00000343257.6:c.1727C>T	ENSP00000339867.2:p.Ser576Phe
NM_000083.2:c.1727C>T	NP_000074.2:p.Ser576Phe
NR_046453.1:n.1667C>T
XM_011515781.1:c.1751C>T	XP_011514083.1:p.Ser584Phe
XM_011515782.1:c.473C>T	XP_011514084.1:p.Ser158Phe
XM_011515782.2:c.473C>T	XP_011514084.1:p.Ser158Phe
XM_017011739.1:c.1301C>T	XP_016867228.1:p.Ser434Phe
XM_017011740.1:c.1277C>T	XP_016867229.1:p.Ser426Phe
NM_000083.3:c.1727C>T MANE Select	NP_000074.3:p.Ser576Phe
NR_046453.2:n.1682C>T