Canonical Allele Identifier: CA369646693

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143039187A>T (hg19) ; chr7:g.143342094A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143342094A>T , CM000669.2:g.143342094A>T	GRCh38
NC_000007.13:g.143039187A>T , CM000669.1:g.143039187A>T	GRCh37
NC_000007.12:g.142749309A>T	NCBI36
NG_009815.1:g.30969A>T
NG_009815.2:g.30969A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1748A>T	ENSP00000498052.2:p.Gln583Leu
ENST00000343257.7:c.1748A>T MANE Select	ENSP00000339867.2:p.Gln583Leu
ENST00000432192.6:c.1572A>T
ENST00000343257.6:c.1748A>T	ENSP00000339867.2:p.Gln583Leu
NM_000083.2:c.1748A>T	NP_000074.2:p.Gln583Leu
NR_046453.1:n.1688A>T
XM_011515781.1:c.1772A>T	XP_011514083.1:p.Gln591Leu
XM_011515782.1:c.494A>T	XP_011514084.1:p.Gln165Leu
XM_011515782.2:c.494A>T	XP_011514084.1:p.Gln165Leu
XM_017011739.1:c.1322A>T	XP_016867228.1:p.Gln441Leu
XM_017011740.1:c.1298A>T	XP_016867229.1:p.Gln433Leu
NM_000083.3:c.1748A>T MANE Select	NP_000074.3:p.Gln583Leu
NR_046453.2:n.1703A>T