Canonical Allele Identifier: CA369684465

Gene: CLCN1

Linked Data

• dbSNP Id: rs769612798
• gnomAD v4: 7-143321753-G-T
• MyVariant Identifiers: chr7:g.143018846G>T (hg19) ; chr7:g.143321753G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321753G>T , CM000669.2:g.143321753G>T	GRCh38
NC_000007.13:g.143018846G>T , CM000669.1:g.143018846G>T	GRCh37
NC_000007.12:g.142728968G>T	NCBI36
NG_009815.1:g.10628G>T
NG_009815.2:g.10628G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.601G>T	ENSP00000498052.2:p.Val201Phe
ENST00000343257.7:c.601G>T MANE Select	ENSP00000339867.2:p.Val201Phe
ENST00000432192.6:c.369G>T
ENST00000455478.6:c.55G>T	ENSP00000400027.2:p.Val19Phe
ENST00000650516.1:c.601G>T	ENSP00000498052.1:p.Val201Phe
ENST00000343257.6:c.601G>T	ENSP00000339867.2:p.Val201Phe
ENST00000432192.5:c.59G>T
ENST00000455478.5:c.59G>T
ENST00000495612.1:n.59G>T
NM_000083.2:c.601G>T	NP_000074.2:p.Val201Phe
NR_046453.1:n.688G>T
XM_011515781.1:c.601G>T	XP_011514083.1:p.Val201Phe
XM_017011739.1:c.308G>T	XP_016867228.1:p.Gly103Val
XM_017011740.1:c.308G>T	XP_016867229.1:p.Gly103Val
NM_000083.3:c.601G>T MANE Select	NP_000074.3:p.Val201Phe
NR_046453.2:n.703G>T