Canonical Allele Identifier: CA369650048

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143345628A>T , CM000669.2:g.143345628A>T	GRCh38
NC_000007.13:g.143042721A>T , CM000669.1:g.143042721A>T	GRCh37
NC_000007.12:g.142752843A>T	NCBI36
NG_009815.1:g.34503A>T
NG_009815.2:g.34503A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000083.3:c.2038A>T MANE Select	NP_000074.3:p.Lys680Ter
ENST00000343257.7:c.2038A>T MANE Select	ENSP00000339867.2:p.Lys680Ter
NM_000083.2:c.2038A>T	NP_000074.2:p.Lys680Ter
NR_046453.1:n.1978A>T
NR_046453.2:n.1993A>T
ENST00000343257.6:c.2038A>T	ENSP00000339867.2:p.Lys680Ter
ENST00000432192.6:c.1862A>T
ENST00000650516.2:c.2038A>T	ENSP00000498052.2:p.Lys680Ter
XM_011515781.1:c.2062A>T	XP_011514083.1:p.Lys688Ter
XM_011515782.1:c.784A>T	XP_011514084.1:p.Lys262Ter
XM_011515782.2:c.784A>T	XP_011514084.1:p.Lys262Ter
XM_017011739.1:c.1612A>T	XP_016867228.1:p.Lys538Ter
XM_017011740.1:c.1588A>T	XP_016867229.1:p.Lys530Ter