Canonical Allele Identifier: CA369654170

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143048999T>A (hg19) ; chr7:g.143351906T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351906T>A , CM000669.2:g.143351906T>A	GRCh38
NC_000007.13:g.143048999T>A , CM000669.1:g.143048999T>A	GRCh37
NC_000007.12:g.142759121T>A	NCBI36
NG_009815.1:g.40781T>A
NG_009815.2:g.40781T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2908T>A	ENSP00000498052.2:p.Leu970Met
ENST00000343257.7:c.2908T>A MANE Select	ENSP00000339867.2:p.Leu970Met
ENST00000343257.6:c.2908T>A	ENSP00000339867.2:p.Leu970Met
NM_000083.2:c.2908T>A	NP_000074.2:p.Leu970Met
NR_046453.1:n.2848T>A
XM_011515781.1:c.2932T>A	XP_011514083.1:p.Leu978Met
XM_011515782.1:c.1654T>A	XP_011514084.1:p.Leu552Met
XM_011515782.2:c.1654T>A	XP_011514084.1:p.Leu552Met
XM_017011739.1:c.2482T>A	XP_016867228.1:p.Leu828Met
XM_017011740.1:c.2458T>A	XP_016867229.1:p.Leu820Met
NM_000083.3:c.2908T>A MANE Select	NP_000074.3:p.Leu970Met
NR_046453.2:n.2863T>A