Canonical Allele Identifier: CA369644426

Gene: CLCN1

Linked Data

• dbSNP Id: rs562154756
• MyVariant Identifiers: chr7:g.143029965A>T (hg19) ; chr7:g.143332872A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143332872A>T , CM000669.2:g.143332872A>T	GRCh38
NC_000007.13:g.143029965A>T , CM000669.1:g.143029965A>T	GRCh37
NC_000007.12:g.142740087A>T	NCBI36
NG_009815.1:g.21747A>T
NG_009815.2:g.21747A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.1400A>T	ENSP00000498052.2:p.Lys467Met
ENST00000343257.7:c.1400A>T MANE Select	ENSP00000339867.2:p.Lys467Met
ENST00000432192.6:c.1224A>T
ENST00000343257.6:c.1400A>T	ENSP00000339867.2:p.Lys467Met
NM_000083.2:c.1400A>T	NP_000074.2:p.Lys467Met
NR_046453.1:n.1341+369A>T
XM_011515781.1:c.1424A>T	XP_011514083.1:p.Lys475Met
XM_011515782.1:c.146A>T	XP_011514084.1:p.Lys49Met
XM_011515782.2:c.146A>T	XP_011514084.1:p.Lys49Met
XM_017011739.1:c.974A>T	XP_016867228.1:p.Lys325Met
XM_017011740.1:c.950A>T	XP_016867229.1:p.Lys317Met
NM_000083.3:c.1400A>T MANE Select	NP_000074.3:p.Lys467Met
NR_046453.2:n.1356+369A>T