Canonical Allele Identifier: CA458542529

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143048842T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351749T>A , CM000669.2:g.143351749T>A	GRCh38
NC_000007.13:g.143048842T>A , CM000669.1:g.143048842T>A	GRCh37
NC_000007.12:g.142758964T>A	NCBI36
NG_009815.1:g.40624T>A
NG_009815.2:g.40624T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2751T>A	ENSP00000498052.2:p.Thr917=
ENST00000343257.7:c.2751T>A MANE Select	ENSP00000339867.2:p.Thr917=
ENST00000343257.6:c.2751T>A	ENSP00000339867.2:p.Thr917=
NM_000083.2:c.2751T>A	NP_000074.2:p.Thr917=
NR_046453.1:n.2691T>A
XM_011515781.1:c.2775T>A	XP_011514083.1:p.Thr925=
XM_011515782.1:c.1497T>A	XP_011514084.1:p.Thr499=
XM_011515782.2:c.1497T>A	XP_011514084.1:p.Thr499=
XM_017011739.1:c.2325T>A	XP_016867228.1:p.Thr775=
XM_017011740.1:c.2301T>A	XP_016867229.1:p.Thr767=
NM_000083.3:c.2751T>A MANE Select	NP_000074.3:p.Thr917=
NR_046453.2:n.2706T>A