Canonical Allele Identifier: CA458542325

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143048737T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351644T>C , CM000669.2:g.143351644T>C	GRCh38
NC_000007.13:g.143048737T>C , CM000669.1:g.143048737T>C	GRCh37
NC_000007.12:g.142758859T>C	NCBI36
NG_009815.1:g.40519T>C
NG_009815.2:g.40519T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.2646T>C	ENSP00000498052.2:p.Pro882=
ENST00000343257.7:c.2646T>C MANE Select	ENSP00000339867.2:p.Pro882=
ENST00000432192.6:c.2470T>C
ENST00000343257.6:c.2646T>C	ENSP00000339867.2:p.Pro882=
NM_000083.2:c.2646T>C	NP_000074.2:p.Pro882=
NR_046453.1:n.2586T>C
XM_011515781.1:c.2670T>C	XP_011514083.1:p.Pro890=
XM_011515782.1:c.1392T>C	XP_011514084.1:p.Pro464=
XM_011515782.2:c.1392T>C	XP_011514084.1:p.Pro464=
XM_017011739.1:c.2220T>C	XP_016867228.1:p.Pro740=
XM_017011740.1:c.2196T>C	XP_016867229.1:p.Pro732=
NM_000083.3:c.2646T>C MANE Select	NP_000074.3:p.Pro882=
NR_046453.2:n.2601T>C