Canonical Allele Identifier: CA369683995

Gene: CLCN1

Linked Data

• gnomAD v4: 7-143321475-A-C
• MyVariant Identifiers: chr7:g.143018568A>C (hg19) ; chr7:g.143321475A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321475A>C , CM000669.2:g.143321475A>C	GRCh38
NC_000007.13:g.143018568A>C , CM000669.1:g.143018568A>C	GRCh37
NC_000007.12:g.142728690A>C	NCBI36
NG_009815.1:g.10350A>C
NG_009815.2:g.10350A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.544A>C	ENSP00000498052.2:p.Ile182Leu
ENST00000343257.7:c.544A>C MANE Select	ENSP00000339867.2:p.Ile182Leu
ENST00000432192.6:c.312A>C
ENST00000650516.1:c.544A>C	ENSP00000498052.1:p.Ile182Leu
ENST00000343257.6:c.544A>C	ENSP00000339867.2:p.Ile182Leu
ENST00000432192.5:c.2A>C
ENST00000455478.5:c.2A>C
ENST00000495612.1:n.2A>C
NM_000083.2:c.544A>C	NP_000074.2:p.Ile182Leu
NR_046453.1:n.631A>C
XM_011515781.1:c.544A>C	XP_011514083.1:p.Ile182Leu
XM_017011739.1:c.251A>C	XP_016867228.1:p.His84Pro
XM_017011740.1:c.251A>C	XP_016867229.1:p.His84Pro
NM_000083.3:c.544A>C MANE Select	NP_000074.3:p.Ile182Leu
NR_046453.2:n.646A>C