Canonical Allele Identifier: CA369687551

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 571813
• ClinVar RCV Id: RCV000693050 ; RCV003144519
• dbSNP Id: rs1563075892
• MyVariant Identifiers: chr7:g.143021547C>T (hg19) ; chr7:g.143324454C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143324454C>T , CM000669.2:g.143324454C>T	GRCh38
NC_000007.13:g.143021547C>T , CM000669.1:g.143021547C>T	GRCh37
NC_000007.12:g.142731669C>T	NCBI36
NG_009815.1:g.13329C>T
NG_009815.2:g.13329C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.853+557C>T	ENSP00000498052.2:n.853+557C>T
ENST00000343257.7:c.815C>T MANE Select	ENSP00000339867.2:p.Ala272Val
ENST00000432192.6:c.639C>T
ENST00000455478.6:c.403C>T	ENSP00000400027.2:n.403C>T
ENST00000650516.1:c.853+557C>T	ENSP00000498052.1:n.853+557C>T
ENST00000343257.6:c.815C>T	ENSP00000339867.2:p.Ala272Val
ENST00000432192.5:c.329C>T
ENST00000455478.5:c.407C>T
ENST00000495612.1:n.154+2606C>T
NM_000083.2:c.815C>T	NP_000074.2:p.Ala272Val
NR_046453.1:n.905C>T
XM_011515781.1:c.853+557C>T	XP_011514083.1:n.853+557C>T
XM_017011739.1:c.403+2606C>T	XP_016867228.1:n.403+2606C>T
XM_017011740.1:c.403+2606C>T	XP_016867229.1:n.403+2606C>T
NM_000083.3:c.815C>T MANE Select	NP_000074.3:p.Ala272Val
NR_046453.2:n.920C>T