Canonical Allele Identifier: CA369687500

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143324430C>T , CM000669.2:g.143324430C>T	GRCh38
NC_000007.13:g.143021523C>T , CM000669.1:g.143021523C>T	GRCh37
NC_000007.12:g.142731645C>T	NCBI36
NG_009815.1:g.13305C>T
NG_009815.2:g.13305C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000083.3:c.791C>T MANE Select	NP_000074.3:p.Ser264Phe
ENST00000343257.7:c.791C>T MANE Select	ENSP00000339867.2:p.Ser264Phe
NM_000083.2:c.791C>T	NP_000074.2:p.Ser264Phe
NR_046453.1:n.881C>T
NR_046453.2:n.896C>T
ENST00000343257.6:c.791C>T	ENSP00000339867.2:p.Ser264Phe
ENST00000432192.5:c.305C>T
ENST00000432192.6:c.615C>T
ENST00000455478.5:c.383C>T
ENST00000455478.6:c.379C>T	ENSP00000400027.2:n.379C>T
ENST00000495612.1:n.154+2582C>T
ENST00000650516.1:c.853+533C>T	ENSP00000498052.1:n.853+533C>T
ENST00000650516.2:c.853+533C>T	ENSP00000498052.2:n.853+533C>T
XM_011515781.1:c.853+533C>T	XP_011514083.1:n.853+533C>T
XM_017011739.1:c.403+2582C>T	XP_016867228.1:n.403+2582C>T
XM_017011740.1:c.403+2582C>T	XP_016867229.1:n.403+2582C>T