Canonical Allele Identifier: CA369646377

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143039040G>A (hg19) ; chr7:g.143341947G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143341947G>A , CM000669.2:g.143341947G>A	GRCh38
NC_000007.13:g.143039040G>A , CM000669.1:g.143039040G>A	GRCh37
NC_000007.12:g.142749162G>A	NCBI36
NG_009815.1:g.30822G>A
NG_009815.2:g.30822G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.1601G>A	ENSP00000498052.2:p.Gly534Asp
ENST00000343257.7:c.1601G>A MANE Select	ENSP00000339867.2:p.Gly534Asp
ENST00000432192.6:c.1425G>A
ENST00000343257.6:c.1601G>A	ENSP00000339867.2:p.Gly534Asp
NM_000083.2:c.1601G>A	NP_000074.2:p.Gly534Asp
NR_046453.1:n.1541G>A
XM_011515781.1:c.1625G>A	XP_011514083.1:p.Gly542Asp
XM_011515782.1:c.347G>A	XP_011514084.1:p.Gly116Asp
XM_011515782.2:c.347G>A	XP_011514084.1:p.Gly116Asp
XM_017011739.1:c.1175G>A	XP_016867228.1:p.Gly392Asp
XM_017011740.1:c.1151G>A	XP_016867229.1:p.Gly384Asp
NM_000083.3:c.1601G>A MANE Select	NP_000074.3:p.Gly534Asp
NR_046453.2:n.1556G>A