Canonical Allele Identifier: CA369646356

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143039028C>G (hg19) ; chr7:g.143341935C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143341935C>G , CM000669.2:g.143341935C>G	GRCh38
NC_000007.13:g.143039028C>G , CM000669.1:g.143039028C>G	GRCh37
NC_000007.12:g.142749150C>G	NCBI36
NG_009815.1:g.30810C>G
NG_009815.2:g.30810C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1589C>G	ENSP00000498052.2:p.Ala530Gly
ENST00000343257.7:c.1589C>G MANE Select	ENSP00000339867.2:p.Ala530Gly
ENST00000432192.6:c.1413C>G
ENST00000343257.6:c.1589C>G	ENSP00000339867.2:p.Ala530Gly
NM_000083.2:c.1589C>G	NP_000074.2:p.Ala530Gly
NR_046453.1:n.1529C>G
XM_011515781.1:c.1613C>G	XP_011514083.1:p.Ala538Gly
XM_011515782.1:c.335C>G	XP_011514084.1:p.Ala112Gly
XM_011515782.2:c.335C>G	XP_011514084.1:p.Ala112Gly
XM_017011739.1:c.1163C>G	XP_016867228.1:p.Ala388Gly
XM_017011740.1:c.1139C>G	XP_016867229.1:p.Ala380Gly
NM_000083.3:c.1589C>G MANE Select	NP_000074.3:p.Ala530Gly
NR_046453.2:n.1544C>G