Canonical Allele Identifier: CA369641622

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 1709983
• ClinVar RCV Id: RCV002290325
• COSMIC: COSM3431332
• MyVariant Identifiers: chr7:g.143027929C>A (hg19) ; chr7:g.143330836C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143330836C>A , CM000669.2:g.143330836C>A	GRCh38
NC_000007.13:g.143027929C>A , CM000669.1:g.143027929C>A	GRCh37
NC_000007.12:g.142738051C>A	NCBI36
NG_009815.1:g.19711C>A
NG_009815.2:g.19711C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.918C>A	ENSP00000498052.2:p.Phe306Leu
ENST00000343257.7:c.918C>A MANE Select	ENSP00000339867.2:p.Phe306Leu
ENST00000432192.6:c.742C>A
ENST00000455478.6:c.506C>A	ENSP00000400027.2:n.506C>A
ENST00000650516.1:c.918C>A	ENSP00000498052.1:p.Phe306Leu
ENST00000343257.6:c.918C>A	ENSP00000339867.2:p.Phe306Leu
ENST00000432192.5:c.432C>A
ENST00000455478.5:c.510C>A
ENST00000495612.1:n.219C>A
NM_000083.2:c.918C>A	NP_000074.2:p.Phe306Leu
NR_046453.1:n.1008C>A
XM_011515781.1:c.918C>A	XP_011514083.1:p.Phe306Leu
XM_017011739.1:c.468C>A	XP_016867228.1:p.Phe156Leu
XM_017011740.1:c.468C>A	XP_016867229.1:p.Phe156Leu
NM_000083.3:c.918C>A MANE Select	NP_000074.3:p.Phe306Leu
NR_046453.2:n.1023C>A