Canonical Allele Identifier: CA369654015

Gene: CLCN1

Linked Data

• gnomAD v4: 7-143351867-G-T
• MyVariant Identifiers: chr7:g.143048960G>T (hg19) ; chr7:g.143351867G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351867G>T , CM000669.2:g.143351867G>T	GRCh38
NC_000007.13:g.143048960G>T , CM000669.1:g.143048960G>T	GRCh37
NC_000007.12:g.142759082G>T	NCBI36
NG_009815.1:g.40742G>T
NG_009815.2:g.40742G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2869G>T	ENSP00000498052.2:p.Val957Leu
ENST00000343257.7:c.2869G>T MANE Select	ENSP00000339867.2:p.Val957Leu
ENST00000343257.6:c.2869G>T	ENSP00000339867.2:p.Val957Leu
NM_000083.2:c.2869G>T	NP_000074.2:p.Val957Leu
NR_046453.1:n.2809G>T
XM_011515781.1:c.2893G>T	XP_011514083.1:p.Val965Leu
XM_011515782.1:c.1615G>T	XP_011514084.1:p.Val539Leu
XM_011515782.2:c.1615G>T	XP_011514084.1:p.Val539Leu
XM_017011739.1:c.2443G>T	XP_016867228.1:p.Val815Leu
XM_017011740.1:c.2419G>T	XP_016867229.1:p.Val807Leu
NM_000083.3:c.2869G>T MANE Select	NP_000074.3:p.Val957Leu
NR_046453.2:n.2824G>T