Canonical Allele Identifier: CA369648153

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143342494T>G , CM000669.2:g.143342494T>G	GRCh38
NC_000007.13:g.143039587T>G , CM000669.1:g.143039587T>G	GRCh37
NC_000007.12:g.142749709T>G	NCBI36
NG_009815.1:g.31369T>G
NG_009815.2:g.31369T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000083.3:c.1919T>G MANE Select	NP_000074.3:p.Val640Gly
ENST00000343257.7:c.1919T>G MANE Select	ENSP00000339867.2:p.Val640Gly
NM_000083.2:c.1919T>G	NP_000074.2:p.Val640Gly
NR_046453.1:n.1859T>G
NR_046453.2:n.1874T>G
ENST00000343257.6:c.1919T>G	ENSP00000339867.2:p.Val640Gly
ENST00000432192.6:c.1743T>G
ENST00000650516.2:c.1919T>G	ENSP00000498052.2:p.Val640Gly
XM_011515781.1:c.1943T>G	XP_011514083.1:p.Val648Gly
XM_011515782.1:c.665T>G	XP_011514084.1:p.Val222Gly
XM_011515782.2:c.665T>G	XP_011514084.1:p.Val222Gly
XM_017011739.1:c.1493T>G	XP_016867228.1:p.Val498Gly
XM_017011740.1:c.1469T>G	XP_016867229.1:p.Val490Gly