Canonical Allele Identifier: CA369653869

Gene: CLCN1

Linked Data

• COSMIC: COSM5710443
• MyVariant Identifiers: chr7:g.143048909C>T (hg19) ; chr7:g.143351816C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351816C>T , CM000669.2:g.143351816C>T	GRCh38
NC_000007.13:g.143048909C>T , CM000669.1:g.143048909C>T	GRCh37
NC_000007.12:g.142759031C>T	NCBI36
NG_009815.1:g.40691C>T
NG_009815.2:g.40691C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2818C>T	ENSP00000498052.2:p.Leu940Phe
ENST00000343257.7:c.2818C>T MANE Select	ENSP00000339867.2:p.Leu940Phe
ENST00000343257.6:c.2818C>T	ENSP00000339867.2:p.Leu940Phe
NM_000083.2:c.2818C>T	NP_000074.2:p.Leu940Phe
NR_046453.1:n.2758C>T
XM_011515781.1:c.2842C>T	XP_011514083.1:p.Leu948Phe
XM_011515782.1:c.1564C>T	XP_011514084.1:p.Leu522Phe
XM_011515782.2:c.1564C>T	XP_011514084.1:p.Leu522Phe
XM_017011739.1:c.2392C>T	XP_016867228.1:p.Leu798Phe
XM_017011740.1:c.2368C>T	XP_016867229.1:p.Leu790Phe
NM_000083.3:c.2818C>T MANE Select	NP_000074.3:p.Leu940Phe
NR_046453.2:n.2773C>T