Canonical Allele Identifier: CA369653913

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143048931T>G (hg19) ; chr7:g.143351838T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351838T>G , CM000669.2:g.143351838T>G	GRCh38
NC_000007.13:g.143048931T>G , CM000669.1:g.143048931T>G	GRCh37
NC_000007.12:g.142759053T>G	NCBI36
NG_009815.1:g.40713T>G
NG_009815.2:g.40713T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2840T>G	ENSP00000498052.2:p.Val947Gly
ENST00000343257.7:c.2840T>G MANE Select	ENSP00000339867.2:p.Val947Gly
ENST00000343257.6:c.2840T>G	ENSP00000339867.2:p.Val947Gly
NM_000083.2:c.2840T>G	NP_000074.2:p.Val947Gly
NR_046453.1:n.2780T>G
XM_011515781.1:c.2864T>G	XP_011514083.1:p.Val955Gly
XM_011515782.1:c.1586T>G	XP_011514084.1:p.Val529Gly
XM_011515782.2:c.1586T>G	XP_011514084.1:p.Val529Gly
XM_017011739.1:c.2414T>G	XP_016867228.1:p.Val805Gly
XM_017011740.1:c.2390T>G	XP_016867229.1:p.Val797Gly
NM_000083.3:c.2840T>G MANE Select	NP_000074.3:p.Val947Gly
NR_046453.2:n.2795T>G