Canonical Allele Identifier: CA4537785

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351783A>T , CM000669.2:g.143351783A>T	GRCh38
NC_000007.13:g.143048876A>T , CM000669.1:g.143048876A>T	GRCh37
NC_000007.12:g.142758998A>T	NCBI36
NG_009815.1:g.40658A>T
NG_009815.2:g.40658A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000083.3:c.2785A>T MANE Select	NP_000074.3:p.Thr929Ser
ENST00000343257.7:c.2785A>T MANE Select	ENSP00000339867.2:p.Thr929Ser
NM_000083.2:c.2785A>T	NP_000074.2:p.Thr929Ser
NR_046453.1:n.2725A>T
NR_046453.2:n.2740A>T
ENST00000343257.6:c.2785A>T	ENSP00000339867.2:p.Thr929Ser
ENST00000650516.2:c.2785A>T	ENSP00000498052.2:p.Thr929Ser
XM_011515781.1:c.2809A>T	XP_011514083.1:p.Thr937Ser
XM_011515782.1:c.1531A>T	XP_011514084.1:p.Thr511Ser
XM_011515782.2:c.1531A>T	XP_011514084.1:p.Thr511Ser
XM_017011739.1:c.2359A>T	XP_016867228.1:p.Thr787Ser
XM_017011740.1:c.2335A>T	XP_016867229.1:p.Thr779Ser