Canonical Allele Identifier: CA369686807

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143323383T>G , CM000669.2:g.143323383T>G	GRCh38
NC_000007.13:g.143020476T>G , CM000669.1:g.143020476T>G	GRCh37
NC_000007.12:g.142730598T>G	NCBI36
NG_009815.1:g.12258T>G
NG_009815.2:g.12258T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000083.3:c.771T>G MANE Select	NP_000074.3:p.Tyr257Ter
ENST00000343257.7:c.771T>G MANE Select	ENSP00000339867.2:p.Tyr257Ter
NM_000083.2:c.771T>G	NP_000074.2:p.Tyr257Ter
NR_046453.1:n.858T>G
NR_046453.2:n.873T>G
ENST00000343257.6:c.771T>G	ENSP00000339867.2:p.Tyr257Ter
ENST00000432192.5:c.155-190T>G
ENST00000432192.6:c.465-190T>G
ENST00000455478.5:c.229T>G
ENST00000455478.6:c.225T>G	ENSP00000400027.2:p.Tyr75Ter
ENST00000495612.1:n.154+1535T>G
ENST00000650516.1:c.771T>G	ENSP00000498052.1:p.Tyr257Ter
ENST00000650516.2:c.771T>G	ENSP00000498052.2:p.Tyr257Ter
XM_011515781.1:c.771T>G	XP_011514083.1:p.Tyr257Ter
XM_017011739.1:c.403+1535T>G	XP_016867228.1:n.403+1535T>G
XM_017011740.1:c.403+1535T>G	XP_016867229.1:n.403+1535T>G