Canonical Allele Identifier: CA458282295

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143029844T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143332751T>C , CM000669.2:g.143332751T>C	GRCh38
NC_000007.13:g.143029844T>C , CM000669.1:g.143029844T>C	GRCh37
NC_000007.12:g.142739966T>C	NCBI36
NG_009815.1:g.21626T>C
NG_009815.2:g.21626T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1279T>C	ENSP00000498052.2:p.Leu427=
ENST00000343257.7:c.1279T>C MANE Select	ENSP00000339867.2:p.Leu427=
ENST00000432192.6:c.1103T>C
ENST00000343257.6:c.1279T>C	ENSP00000339867.2:p.Leu427=
NM_000083.2:c.1279T>C	NP_000074.2:p.Leu427=
NR_046453.1:n.1341+248T>C
XM_011515781.1:c.1303T>C	XP_011514083.1:p.Leu435=
XM_011515782.1:c.25T>C	XP_011514084.1:p.Leu9=
XM_011515782.2:c.25T>C	XP_011514084.1:p.Leu9=
XM_017011739.1:c.853T>C	XP_016867228.1:p.Leu285=
XM_017011740.1:c.829T>C	XP_016867229.1:p.Leu277=
NM_000083.3:c.1279T>C MANE Select	NP_000074.3:p.Leu427=
NR_046453.2:n.1356+248T>C