Canonical Allele Identifier: CA2579051083

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143352006C>A , CM000669.2:g.143352006C>A	GRCh38
NC_000007.13:g.143049099C>A , CM000669.1:g.143049099C>A	GRCh37
NC_000007.12:g.142759221C>A	NCBI36
NG_009815.1:g.40881C>A
NG_009815.2:g.40881C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.*41C>A	ENSP00000498052.2:n.*41C>A
ENST00000343257.7:c.*41C>A MANE Select	ENSP00000339867.2:n.*41C>A
ENST00000343257.6:c.*41C>A	ENSP00000339867.2:n.*41C>A
XM_011515781.1:c.*41C>A	XP_011514083.1:n.*41C>A
XM_011515782.1:c.*41C>A	XP_011514084.1:n.*41C>A
XM_011515782.2:c.*41C>A	XP_011514084.1:n.*41C>A
XM_017011739.1:c.*41C>A	XP_016867228.1:n.*41C>A
XM_017011740.1:c.*41C>A	XP_016867229.1:n.*41C>A
NM_000083.3:c.*41C>A MANE Select	NP_000074.3:n.*41C>A
NR_046453.2:n.2963C>A