Canonical Allele Identifier: CA458542404

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143048915C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351822C>T , CM000669.2:g.143351822C>T	GRCh38
NC_000007.13:g.143048915C>T , CM000669.1:g.143048915C>T	GRCh37
NC_000007.12:g.142759037C>T	NCBI36
NG_009815.1:g.40697C>T
NG_009815.2:g.40697C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2824C>T	ENSP00000498052.2:p.Leu942=
ENST00000343257.7:c.2824C>T MANE Select	ENSP00000339867.2:p.Leu942=
ENST00000343257.6:c.2824C>T	ENSP00000339867.2:p.Leu942=
NM_000083.2:c.2824C>T	NP_000074.2:p.Leu942=
NR_046453.1:n.2764C>T
XM_011515781.1:c.2848C>T	XP_011514083.1:p.Leu950=
XM_011515782.1:c.1570C>T	XP_011514084.1:p.Leu524=
XM_011515782.2:c.1570C>T	XP_011514084.1:p.Leu524=
XM_017011739.1:c.2398C>T	XP_016867228.1:p.Leu800=
XM_017011740.1:c.2374C>T	XP_016867229.1:p.Leu792=
NM_000083.3:c.2824C>T MANE Select	NP_000074.3:p.Leu942=
NR_046453.2:n.2779C>T