Canonical Allele Identifier: CA458541992

Gene: CLCN1

Linked Data

• dbSNP Id: rs1370151589
• MyVariant Identifiers: chr7:g.143018501G>T (hg19) ; chr7:g.143321408G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321408G>T , CM000669.2:g.143321408G>T	GRCh38
NC_000007.13:g.143018501G>T , CM000669.1:g.143018501G>T	GRCh37
NC_000007.12:g.142728623G>T	NCBI36
NG_009815.1:g.10283G>T
NG_009815.2:g.10283G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.477G>T	ENSP00000498052.2:p.Leu159=
ENST00000343257.7:c.477G>T MANE Select	ENSP00000339867.2:p.Leu159=
ENST00000432192.6:c.245G>T
ENST00000650516.1:c.477G>T	ENSP00000498052.1:p.Leu159=
ENST00000343257.6:c.477G>T	ENSP00000339867.2:p.Leu159=
NM_000083.2:c.477G>T	NP_000074.2:p.Leu159=
NR_046453.1:n.564G>T
XM_011515781.1:c.477G>T	XP_011514083.1:p.Leu159=
XM_017011739.1:c.184G>T	XP_016867228.1:p.Ala62Ser
XM_017011740.1:c.184G>T	XP_016867229.1:p.Ala62Ser
NM_000083.3:c.477G>T MANE Select	NP_000074.3:p.Leu159=
NR_046453.2:n.579G>T