Canonical Allele Identifier: CA458542070

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143018576C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321483C>A , CM000669.2:g.143321483C>A	GRCh38
NC_000007.13:g.143018576C>A , CM000669.1:g.143018576C>A	GRCh37
NC_000007.12:g.142728698C>A	NCBI36
NG_009815.1:g.10358C>A
NG_009815.2:g.10358C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.552C>A	ENSP00000498052.2:p.Pro184=
ENST00000343257.7:c.552C>A MANE Select	ENSP00000339867.2:p.Pro184=
ENST00000432192.6:c.320C>A
ENST00000455478.6:c.6C>A	ENSP00000400027.2:p.Pro2=
ENST00000650516.1:c.552C>A	ENSP00000498052.1:p.Pro184=
ENST00000343257.6:c.552C>A	ENSP00000339867.2:p.Pro184=
ENST00000432192.5:c.10C>A
ENST00000455478.5:c.10C>A
ENST00000495612.1:n.10C>A
NM_000083.2:c.552C>A	NP_000074.2:p.Pro184=
NR_046453.1:n.639C>A
XM_011515781.1:c.552C>A	XP_011514083.1:p.Pro184=
XM_017011739.1:c.259C>A	XP_016867228.1:p.Pro87Thr
XM_017011740.1:c.259C>A	XP_016867229.1:p.Pro87Thr
NM_000083.3:c.552C>A MANE Select	NP_000074.3:p.Pro184=
NR_046453.2:n.654C>A