Canonical Allele Identifier: CA369687489

Gene: CLCN1

Linked Data

• gnomAD v4: 7-143324426-T-G
• MyVariant Identifiers: chr7:g.143021519T>G (hg19) ; chr7:g.143324426T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143324426T>G , CM000669.2:g.143324426T>G	GRCh38
NC_000007.13:g.143021519T>G , CM000669.1:g.143021519T>G	GRCh37
NC_000007.12:g.142731641T>G	NCBI36
NG_009815.1:g.13301T>G
NG_009815.2:g.13301T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.853+529T>G	ENSP00000498052.2:n.853+529T>G
ENST00000343257.7:c.787T>G MANE Select	ENSP00000339867.2:p.Tyr263Asp
ENST00000432192.6:c.611T>G
ENST00000455478.6:c.375T>G	ENSP00000400027.2:n.375T>G
ENST00000650516.1:c.853+529T>G	ENSP00000498052.1:n.853+529T>G
ENST00000343257.6:c.787T>G	ENSP00000339867.2:p.Tyr263Asp
ENST00000432192.5:c.301T>G
ENST00000455478.5:c.379T>G
ENST00000495612.1:n.154+2578T>G
NM_000083.2:c.787T>G	NP_000074.2:p.Tyr263Asp
NR_046453.1:n.877T>G
XM_011515781.1:c.853+529T>G	XP_011514083.1:n.853+529T>G
XM_017011739.1:c.403+2578T>G	XP_016867228.1:n.403+2578T>G
XM_017011740.1:c.403+2578T>G	XP_016867229.1:n.403+2578T>G
NM_000083.3:c.787T>G MANE Select	NP_000074.3:p.Tyr263Asp
NR_046453.2:n.892T>G