Canonical Allele Identifier: CA369687545

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143021545T>G (hg19) ; chr7:g.143324452T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143324452T>G , CM000669.2:g.143324452T>G	GRCh38
NC_000007.13:g.143021545T>G , CM000669.1:g.143021545T>G	GRCh37
NC_000007.12:g.142731667T>G	NCBI36
NG_009815.1:g.13327T>G
NG_009815.2:g.13327T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.853+555T>G	ENSP00000498052.2:n.853+555T>G
ENST00000343257.7:c.813T>G MANE Select	ENSP00000339867.2:p.Cys271Trp
ENST00000432192.6:c.637T>G
ENST00000455478.6:c.401T>G	ENSP00000400027.2:n.401T>G
ENST00000650516.1:c.853+555T>G	ENSP00000498052.1:n.853+555T>G
ENST00000343257.6:c.813T>G	ENSP00000339867.2:p.Cys271Trp
ENST00000432192.5:c.327T>G
ENST00000455478.5:c.405T>G
ENST00000495612.1:n.154+2604T>G
NM_000083.2:c.813T>G	NP_000074.2:p.Cys271Trp
NR_046453.1:n.903T>G
XM_011515781.1:c.853+555T>G	XP_011514083.1:n.853+555T>G
XM_017011739.1:c.403+2604T>G	XP_016867228.1:n.403+2604T>G
XM_017011740.1:c.403+2604T>G	XP_016867229.1:n.403+2604T>G
NM_000083.3:c.813T>G MANE Select	NP_000074.3:p.Cys271Trp
NR_046453.2:n.918T>G