Canonical Allele Identifier: CA369646838

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143039235G>T (hg19) ; chr7:g.143342142G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143342142G>T , CM000669.2:g.143342142G>T	GRCh38
NC_000007.13:g.143039235G>T , CM000669.1:g.143039235G>T	GRCh37
NC_000007.12:g.142749357G>T	NCBI36
NG_009815.1:g.31017G>T
NG_009815.2:g.31017G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1796G>T	ENSP00000498052.2:p.Ser599Ile
ENST00000343257.7:c.1796G>T MANE Select	ENSP00000339867.2:p.Ser599Ile
ENST00000432192.6:c.1620G>T
ENST00000343257.6:c.1796G>T	ENSP00000339867.2:p.Ser599Ile
NM_000083.2:c.1796G>T	NP_000074.2:p.Ser599Ile
NR_046453.1:n.1736G>T
XM_011515781.1:c.1820G>T	XP_011514083.1:p.Ser607Ile
XM_011515782.1:c.542G>T	XP_011514084.1:p.Ser181Ile
XM_011515782.2:c.542G>T	XP_011514084.1:p.Ser181Ile
XM_017011739.1:c.1370G>T	XP_016867228.1:p.Ser457Ile
XM_017011740.1:c.1346G>T	XP_016867229.1:p.Ser449Ile
NM_000083.3:c.1796G>T MANE Select	NP_000074.3:p.Ser599Ile
NR_046453.2:n.1751G>T