Canonical Allele Identifier: CA369648074

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143342485T>A , CM000669.2:g.143342485T>A	GRCh38
NC_000007.13:g.143039578T>A , CM000669.1:g.143039578T>A	GRCh37
NC_000007.12:g.142749700T>A	NCBI36
NG_009815.1:g.31360T>A
NG_009815.2:g.31360T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000083.3:c.1910T>A MANE Select	NP_000074.3:p.Leu637Ter
ENST00000343257.7:c.1910T>A MANE Select	ENSP00000339867.2:p.Leu637Ter
NM_000083.2:c.1910T>A	NP_000074.2:p.Leu637Ter
NR_046453.1:n.1850T>A
NR_046453.2:n.1865T>A
ENST00000343257.6:c.1910T>A	ENSP00000339867.2:p.Leu637Ter
ENST00000432192.6:c.1734T>A
ENST00000650516.2:c.1910T>A	ENSP00000498052.2:p.Leu637Ter
XM_011515781.1:c.1934T>A	XP_011514083.1:p.Leu645Ter
XM_011515782.1:c.656T>A	XP_011514084.1:p.Leu219Ter
XM_011515782.2:c.656T>A	XP_011514084.1:p.Leu219Ter
XM_017011739.1:c.1484T>A	XP_016867228.1:p.Leu495Ter
XM_017011740.1:c.1460T>A	XP_016867229.1:p.Leu487Ter