Canonical Allele Identifier: CA4537797

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351832G>T , CM000669.2:g.143351832G>T	GRCh38
NC_000007.13:g.143048925G>T , CM000669.1:g.143048925G>T	GRCh37
NC_000007.12:g.142759047G>T	NCBI36
NG_009815.1:g.40707G>T
NG_009815.2:g.40707G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000083.3:c.2834G>T MANE Select	NP_000074.3:p.Gly945Val
ENST00000343257.7:c.2834G>T MANE Select	ENSP00000339867.2:p.Gly945Val
NM_000083.2:c.2834G>T	NP_000074.2:p.Gly945Val
NR_046453.1:n.2774G>T
NR_046453.2:n.2789G>T
ENST00000343257.6:c.2834G>T	ENSP00000339867.2:p.Gly945Val
ENST00000650516.2:c.2834G>T	ENSP00000498052.2:p.Gly945Val
XM_011515781.1:c.2858G>T	XP_011514083.1:p.Gly953Val
XM_011515782.1:c.1580G>T	XP_011514084.1:p.Gly527Val
XM_011515782.2:c.1580G>T	XP_011514084.1:p.Gly527Val
XM_017011739.1:c.2408G>T	XP_016867228.1:p.Gly803Val
XM_017011740.1:c.2384G>T	XP_016867229.1:p.Gly795Val