Canonical Allele Identifier: CA369646400

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143039052A>G (hg19) ; chr7:g.143341959A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143341959A>G , CM000669.2:g.143341959A>G	GRCh38
NC_000007.13:g.143039052A>G , CM000669.1:g.143039052A>G	GRCh37
NC_000007.12:g.142749174A>G	NCBI36
NG_009815.1:g.30834A>G
NG_009815.2:g.30834A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1613A>G	ENSP00000498052.2:p.His538Arg
ENST00000343257.7:c.1613A>G MANE Select	ENSP00000339867.2:p.His538Arg
ENST00000432192.6:c.1437A>G
ENST00000343257.6:c.1613A>G	ENSP00000339867.2:p.His538Arg
NM_000083.2:c.1613A>G	NP_000074.2:p.His538Arg
NR_046453.1:n.1553A>G
XM_011515781.1:c.1637A>G	XP_011514083.1:p.His546Arg
XM_011515782.1:c.359A>G	XP_011514084.1:p.His120Arg
XM_011515782.2:c.359A>G	XP_011514084.1:p.His120Arg
XM_017011739.1:c.1187A>G	XP_016867228.1:p.His396Arg
XM_017011740.1:c.1163A>G	XP_016867229.1:p.His388Arg
NM_000083.3:c.1613A>G MANE Select	NP_000074.3:p.His538Arg
NR_046453.2:n.1568A>G