Canonical Allele Identifier: CA458282275

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143029840T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143332747T>C , CM000669.2:g.143332747T>C	GRCh38
NC_000007.13:g.143029840T>C , CM000669.1:g.143029840T>C	GRCh37
NC_000007.12:g.142739962T>C	NCBI36
NG_009815.1:g.21622T>C
NG_009815.2:g.21622T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1275T>C	ENSP00000498052.2:p.Ser425=
ENST00000343257.7:c.1275T>C MANE Select	ENSP00000339867.2:p.Ser425=
ENST00000432192.6:c.1099T>C
ENST00000343257.6:c.1275T>C	ENSP00000339867.2:p.Ser425=
NM_000083.2:c.1275T>C	NP_000074.2:p.Ser425=
NR_046453.1:n.1341+244T>C
XM_011515781.1:c.1299T>C	XP_011514083.1:p.Ser433=
XM_011515782.1:c.21T>C	XP_011514084.1:p.Ser7=
XM_011515782.2:c.21T>C	XP_011514084.1:p.Ser7=
XM_017011739.1:c.849T>C	XP_016867228.1:p.Ser283=
XM_017011740.1:c.825T>C	XP_016867229.1:p.Ser275=
NM_000083.3:c.1275T>C MANE Select	NP_000074.3:p.Ser425=
NR_046453.2:n.1356+244T>C