Canonical Allele Identifier: CA369653527

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143048736C>A (hg19) ; chr7:g.143351643C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351643C>A , CM000669.2:g.143351643C>A	GRCh38
NC_000007.13:g.143048736C>A , CM000669.1:g.143048736C>A	GRCh37
NC_000007.12:g.142758858C>A	NCBI36
NG_009815.1:g.40518C>A
NG_009815.2:g.40518C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.2645C>A	ENSP00000498052.2:p.Pro882His
ENST00000343257.7:c.2645C>A MANE Select	ENSP00000339867.2:p.Pro882His
ENST00000432192.6:c.2469C>A
ENST00000343257.6:c.2645C>A	ENSP00000339867.2:p.Pro882His
NM_000083.2:c.2645C>A	NP_000074.2:p.Pro882His
NR_046453.1:n.2585C>A
XM_011515781.1:c.2669C>A	XP_011514083.1:p.Pro890His
XM_011515782.1:c.1391C>A	XP_011514084.1:p.Pro464His
XM_011515782.2:c.1391C>A	XP_011514084.1:p.Pro464His
XM_017011739.1:c.2219C>A	XP_016867228.1:p.Pro740His
XM_017011740.1:c.2195C>A	XP_016867229.1:p.Pro732His
NM_000083.3:c.2645C>A MANE Select	NP_000074.3:p.Pro882His
NR_046453.2:n.2600C>A