Canonical Allele Identifier: CA458542305

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143048710C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351617C>T , CM000669.2:g.143351617C>T	GRCh38
NC_000007.13:g.143048710C>T , CM000669.1:g.143048710C>T	GRCh37
NC_000007.12:g.142758832C>T	NCBI36
NG_009815.1:g.40492C>T
NG_009815.2:g.40492C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2619C>T	ENSP00000498052.2:p.His873=
ENST00000343257.7:c.2619C>T MANE Select	ENSP00000339867.2:p.His873=
ENST00000432192.6:c.2443C>T
ENST00000343257.6:c.2619C>T	ENSP00000339867.2:p.His873=
NM_000083.2:c.2619C>T	NP_000074.2:p.His873=
NR_046453.1:n.2559C>T
XM_011515781.1:c.2643C>T	XP_011514083.1:p.His881=
XM_011515782.1:c.1365C>T	XP_011514084.1:p.His455=
XM_011515782.2:c.1365C>T	XP_011514084.1:p.His455=
XM_017011739.1:c.2193C>T	XP_016867228.1:p.His731=
XM_017011740.1:c.2169C>T	XP_016867229.1:p.His723=
NM_000083.3:c.2619C>T MANE Select	NP_000074.3:p.His873=
NR_046453.2:n.2574C>T