Canonical Allele Identifier: CA369641594

Gene: CLCN1

Linked Data

• gnomAD v4: 7-143330824-C-A
• MyVariant Identifiers: chr7:g.143027917C>A (hg19) ; chr7:g.143330824C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143330824C>A , CM000669.2:g.143330824C>A	GRCh38
NC_000007.13:g.143027917C>A , CM000669.1:g.143027917C>A	GRCh37
NC_000007.12:g.142738039C>A	NCBI36
NG_009815.1:g.19699C>A
NG_009815.2:g.19699C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.906C>A	ENSP00000498052.2:p.Tyr302Ter
ENST00000343257.7:c.906C>A MANE Select	ENSP00000339867.2:p.Tyr302Ter
ENST00000432192.6:c.730C>A
ENST00000455478.6:c.494C>A	ENSP00000400027.2:n.494C>A
ENST00000650516.1:c.906C>A	ENSP00000498052.1:p.Tyr302Ter
ENST00000343257.6:c.906C>A	ENSP00000339867.2:p.Tyr302Ter
ENST00000432192.5:c.420C>A
ENST00000455478.5:c.498C>A
ENST00000495612.1:n.207C>A
NM_000083.2:c.906C>A	NP_000074.2:p.Tyr302Ter
NR_046453.1:n.996C>A
XM_011515781.1:c.906C>A	XP_011514083.1:p.Tyr302Ter
XM_017011739.1:c.456C>A	XP_016867228.1:p.Tyr152Ter
XM_017011740.1:c.456C>A	XP_016867229.1:p.Tyr152Ter
NM_000083.3:c.906C>A MANE Select	NP_000074.3:p.Tyr302Ter
NR_046453.2:n.1011C>A