Canonical Allele Identifier: CA369653514

Gene: CLCN1

Linked Data

• dbSNP Id: rs1803408170
• MyVariant Identifiers: chr7:g.143048729C>T (hg19) ; chr7:g.143351636C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351636C>T , CM000669.2:g.143351636C>T	GRCh38
NC_000007.13:g.143048729C>T , CM000669.1:g.143048729C>T	GRCh37
NC_000007.12:g.142758851C>T	NCBI36
NG_009815.1:g.40511C>T
NG_009815.2:g.40511C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.2638C>T	ENSP00000498052.2:p.Leu880Phe
ENST00000343257.7:c.2638C>T MANE Select	ENSP00000339867.2:p.Leu880Phe
ENST00000432192.6:c.2462C>T
ENST00000343257.6:c.2638C>T	ENSP00000339867.2:p.Leu880Phe
NM_000083.2:c.2638C>T	NP_000074.2:p.Leu880Phe
NR_046453.1:n.2578C>T
XM_011515781.1:c.2662C>T	XP_011514083.1:p.Leu888Phe
XM_011515782.1:c.1384C>T	XP_011514084.1:p.Leu462Phe
XM_011515782.2:c.1384C>T	XP_011514084.1:p.Leu462Phe
XM_017011739.1:c.2212C>T	XP_016867228.1:p.Leu738Phe
XM_017011740.1:c.2188C>T	XP_016867229.1:p.Leu730Phe
NM_000083.3:c.2638C>T MANE Select	NP_000074.3:p.Leu880Phe
NR_046453.2:n.2593C>T