Canonical Allele Identifier: CA168255908

Gene: CLCN1

Linked Data

• dbSNP Id: rs942044088
• gnomAD v4: 7-143321555-C-T
• MyVariant Identifiers: chr7:g.143018648C>T (hg19) ; chr7:g.143321555C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321555C>T , CM000669.2:g.143321555C>T	GRCh38
NC_000007.13:g.143018648C>T , CM000669.1:g.143018648C>T	GRCh37
NC_000007.12:g.142728770C>T	NCBI36
NG_009815.1:g.10430C>T
NG_009815.2:g.10430C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.562+62C>T	ENSP00000498052.2:n.562+62C>T
ENST00000343257.7:c.562+62C>T MANE Select	ENSP00000339867.2:n.562+62C>T
ENST00000432192.6:c.330+62C>T
ENST00000455478.6:c.16+62C>T	ENSP00000400027.2:n.16+62C>T
ENST00000650516.1:c.562+62C>T	ENSP00000498052.1:n.562+62C>T
ENST00000343257.6:c.562+62C>T	ENSP00000339867.2:n.562+62C>T
ENST00000432192.5:c.20+62C>T
ENST00000455478.5:c.20+62C>T
ENST00000495612.1:n.20+62C>T
NM_000083.2:c.562+62C>T	NP_000074.2:n.562+62C>T
NR_046453.1:n.649+62C>T
XM_011515781.1:c.562+62C>T	XP_011514083.1:n.562+62C>T
XM_017011739.1:c.269+62C>T	XP_016867228.1:n.269+62C>T
XM_017011740.1:c.269+62C>T	XP_016867229.1:n.269+62C>T
NM_000083.3:c.562+62C>T MANE Select	NP_000074.3:n.562+62C>T
NR_046453.2:n.664+62C>T