Canonical Allele Identifier: CA2685383008

Gene: CLCN1

Linked Data

• gnomAD v4: 7-143321541-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321541G>T , CM000669.2:g.143321541G>T	GRCh38
NC_000007.13:g.143018634G>T , CM000669.1:g.143018634G>T	GRCh37
NC_000007.12:g.142728756G>T	NCBI36
NG_009815.1:g.10416G>T
NG_009815.2:g.10416G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.562+48G>T	ENSP00000498052.2:n.562+48G>T
ENST00000343257.7:c.562+48G>T MANE Select	ENSP00000339867.2:n.562+48G>T
ENST00000432192.6:c.330+48G>T
ENST00000455478.6:c.16+48G>T	ENSP00000400027.2:n.16+48G>T
ENST00000650516.1:c.562+48G>T	ENSP00000498052.1:n.562+48G>T
ENST00000343257.6:c.562+48G>T	ENSP00000339867.2:n.562+48G>T
ENST00000432192.5:c.20+48G>T
ENST00000455478.5:c.20+48G>T
ENST00000495612.1:n.20+48G>T
NM_000083.2:c.562+48G>T	NP_000074.2:n.562+48G>T
NR_046453.1:n.649+48G>T
XM_011515781.1:c.562+48G>T	XP_011514083.1:n.562+48G>T
XM_017011739.1:c.269+48G>T	XP_016867228.1:n.269+48G>T
XM_017011740.1:c.269+48G>T	XP_016867229.1:n.269+48G>T
NM_000083.3:c.562+48G>T MANE Select	NP_000074.3:n.562+48G>T
NR_046453.2:n.664+48G>T