Canonical Allele Identifier: CA2685382578

Gene: CLCN1

Linked Data

• gnomAD v4: 7-143351539-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351539G>T , CM000669.2:g.143351539G>T	GRCh38
NC_000007.13:g.143048632G>T , CM000669.1:g.143048632G>T	GRCh37
NC_000007.12:g.142758754G>T	NCBI36
NG_009815.1:g.40414G>T
NG_009815.2:g.40414G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.2596-55G>T	ENSP00000498052.2:n.2596-55G>T
ENST00000343257.7:c.2596-55G>T MANE Select	ENSP00000339867.2:n.2596-55G>T
ENST00000432192.6:c.2420-55G>T
ENST00000343257.6:c.2596-55G>T	ENSP00000339867.2:n.2596-55G>T
NM_000083.2:c.2596-55G>T	NP_000074.2:n.2596-55G>T
NR_046453.1:n.2536-55G>T
XM_011515781.1:c.2620-55G>T	XP_011514083.1:n.2620-55G>T
XM_011515782.1:c.1342-55G>T	XP_011514084.1:n.1342-55G>T
XM_011515782.2:c.1342-55G>T	XP_011514084.1:n.1342-55G>T
XM_017011739.1:c.2170-55G>T	XP_016867228.1:n.2170-55G>T
XM_017011740.1:c.2146-55G>T	XP_016867229.1:n.2146-55G>T
NM_000083.3:c.2596-55G>T MANE Select	NP_000074.3:n.2596-55G>T
NR_046453.2:n.2551-55G>T