Canonical Allele Identifier: CA369646748

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143039211C>T (hg19) ; chr7:g.143342118C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143342118C>T , CM000669.2:g.143342118C>T	GRCh38
NC_000007.13:g.143039211C>T , CM000669.1:g.143039211C>T	GRCh37
NC_000007.12:g.142749333C>T	NCBI36
NG_009815.1:g.30993C>T
NG_009815.2:g.30993C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1772C>T	ENSP00000498052.2:p.Pro591Leu
ENST00000343257.7:c.1772C>T MANE Select	ENSP00000339867.2:p.Pro591Leu
ENST00000432192.6:c.1596C>T
ENST00000343257.6:c.1772C>T	ENSP00000339867.2:p.Pro591Leu
NM_000083.2:c.1772C>T	NP_000074.2:p.Pro591Leu
NR_046453.1:n.1712C>T
XM_011515781.1:c.1796C>T	XP_011514083.1:p.Pro599Leu
XM_011515782.1:c.518C>T	XP_011514084.1:p.Pro173Leu
XM_011515782.2:c.518C>T	XP_011514084.1:p.Pro173Leu
XM_017011739.1:c.1346C>T	XP_016867228.1:p.Pro449Leu
XM_017011740.1:c.1322C>T	XP_016867229.1:p.Pro441Leu
NM_000083.3:c.1772C>T MANE Select	NP_000074.3:p.Pro591Leu
NR_046453.2:n.1727C>T