Canonical Allele Identifier: CA458542057

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143018812T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321719T>C , CM000669.2:g.143321719T>C	GRCh38
NC_000007.13:g.143018812T>C , CM000669.1:g.143018812T>C	GRCh37
NC_000007.12:g.142728934T>C	NCBI36
NG_009815.1:g.10594T>C
NG_009815.2:g.10594T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.567T>C	ENSP00000498052.2:p.Ser189=
ENST00000343257.7:c.567T>C MANE Select	ENSP00000339867.2:p.Ser189=
ENST00000432192.6:c.335T>C
ENST00000455478.6:c.21T>C	ENSP00000400027.2:p.Ser7=
ENST00000650516.1:c.567T>C	ENSP00000498052.1:p.Ser189=
ENST00000343257.6:c.567T>C	ENSP00000339867.2:p.Ser189=
ENST00000432192.5:c.25T>C
ENST00000455478.5:c.25T>C
ENST00000495612.1:n.25T>C
NM_000083.2:c.567T>C	NP_000074.2:p.Ser189=
NR_046453.1:n.654T>C
XM_011515781.1:c.567T>C	XP_011514083.1:p.Ser189=
XM_017011739.1:c.274T>C	XP_016867228.1:p.Trp92Arg
XM_017011740.1:c.274T>C	XP_016867229.1:p.Trp92Arg
NM_000083.3:c.567T>C MANE Select	NP_000074.3:p.Ser189=
NR_046453.2:n.669T>C