Canonical Allele Identifier: CA369641677

Gene: CLCN1

Linked Data

• gnomAD v4: 7-143330861-G-C
• MyVariant Identifiers: chr7:g.143027954G>C (hg19) ; chr7:g.143330861G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143330861G>C , CM000669.2:g.143330861G>C	GRCh38
NC_000007.13:g.143027954G>C , CM000669.1:g.143027954G>C	GRCh37
NC_000007.12:g.142738076G>C	NCBI36
NG_009815.1:g.19736G>C
NG_009815.2:g.19736G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.943G>C	ENSP00000498052.2:p.Val315Leu
ENST00000343257.7:c.943G>C MANE Select	ENSP00000339867.2:p.Val315Leu
ENST00000432192.6:c.767G>C
ENST00000455478.6:c.531G>C	ENSP00000400027.2:n.531G>C
ENST00000650516.1:c.943G>C	ENSP00000498052.1:p.Val315Leu
ENST00000343257.6:c.943G>C	ENSP00000339867.2:p.Val315Leu
ENST00000432192.5:c.457G>C
ENST00000455478.5:c.535G>C
ENST00000495612.1:n.244G>C
NM_000083.2:c.943G>C	NP_000074.2:p.Val315Leu
NR_046453.1:n.1033G>C
XM_011515781.1:c.943G>C	XP_011514083.1:p.Val315Leu
XM_017011739.1:c.493G>C	XP_016867228.1:p.Val165Leu
XM_017011740.1:c.493G>C	XP_016867229.1:p.Val165Leu
NM_000083.3:c.943G>C MANE Select	NP_000074.3:p.Val315Leu
NR_046453.2:n.1048G>C