Canonical Allele Identifier: CA369649408

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143345538G>T , CM000669.2:g.143345538G>T	GRCh38
NC_000007.13:g.143042631G>T , CM000669.1:g.143042631G>T	GRCh37
NC_000007.12:g.142752753G>T	NCBI36
NG_009815.1:g.34413G>T
NG_009815.2:g.34413G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000083.3:c.1948G>T MANE Select	NP_000074.3:p.Gly650Cys
ENST00000343257.7:c.1948G>T MANE Select	ENSP00000339867.2:p.Gly650Cys
NM_000083.2:c.1948G>T	NP_000074.2:p.Gly650Cys
NR_046453.1:n.1888G>T
NR_046453.2:n.1903G>T
ENST00000343257.6:c.1948G>T	ENSP00000339867.2:p.Gly650Cys
ENST00000432192.6:c.1772G>T
ENST00000650516.2:c.1948G>T	ENSP00000498052.2:p.Gly650Cys
XM_011515781.1:c.1972G>T	XP_011514083.1:p.Gly658Cys
XM_011515782.1:c.694G>T	XP_011514084.1:p.Gly232Cys
XM_011515782.2:c.694G>T	XP_011514084.1:p.Gly232Cys
XM_017011739.1:c.1522G>T	XP_016867228.1:p.Gly508Cys
XM_017011740.1:c.1498G>T	XP_016867229.1:p.Gly500Cys