Canonical Allele Identifier: CA369643810

Gene: CLCN1

Linked Data

• gnomAD v4: 7-143332746-G-A
• MyVariant Identifiers: chr7:g.143029839G>A (hg19) ; chr7:g.143332746G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143332746G>A , CM000669.2:g.143332746G>A	GRCh38
NC_000007.13:g.143029839G>A , CM000669.1:g.143029839G>A	GRCh37
NC_000007.12:g.142739961G>A	NCBI36
NG_009815.1:g.21621G>A
NG_009815.2:g.21621G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1274G>A	ENSP00000498052.2:p.Ser425Asn
ENST00000343257.7:c.1274G>A MANE Select	ENSP00000339867.2:p.Ser425Asn
ENST00000432192.6:c.1098G>A
ENST00000343257.6:c.1274G>A	ENSP00000339867.2:p.Ser425Asn
NM_000083.2:c.1274G>A	NP_000074.2:p.Ser425Asn
NR_046453.1:n.1341+243G>A
XM_011515781.1:c.1298G>A	XP_011514083.1:p.Ser433Asn
XM_011515782.1:c.20G>A	XP_011514084.1:p.Ser7Asn
XM_011515782.2:c.20G>A	XP_011514084.1:p.Ser7Asn
XM_017011739.1:c.848G>A	XP_016867228.1:p.Ser283Asn
XM_017011740.1:c.824G>A	XP_016867229.1:p.Ser275Asn
NM_000083.3:c.1274G>A MANE Select	NP_000074.3:p.Ser425Asn
NR_046453.2:n.1356+243G>A