Canonical Allele Identifier: CA1108127247

Gene: CLCN1

Linked Data

• dbSNP Id: rs1802722509
• gnomAD v3: 7-143331478-C-T
• gnomAD v4: 7-143331478-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143331478C>T , CM000669.2:g.143331478C>T	GRCh38
NC_000007.13:g.143028571C>T , CM000669.1:g.143028571C>T	GRCh37
NC_000007.12:g.142738693C>T	NCBI36
NG_009815.1:g.20353C>T
NG_009815.2:g.20353C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1065-73C>T	ENSP00000498052.2:n.1065-73C>T
ENST00000343257.7:c.1065-73C>T MANE Select	ENSP00000339867.2:n.1065-73C>T
ENST00000432192.6:c.889-73C>T
ENST00000343257.6:c.1065-73C>T	ENSP00000339867.2:n.1065-73C>T
NM_000083.2:c.1065-73C>T	NP_000074.2:n.1065-73C>T
NR_046453.1:n.1155-73C>T
XM_011515781.1:c.1065-73C>T	XP_011514083.1:n.1065-73C>T
XM_017011739.1:c.615-73C>T	XP_016867228.1:n.615-73C>T
XM_017011740.1:c.615-73C>T	XP_016867229.1:n.615-73C>T
NM_000083.3:c.1065-73C>T MANE Select	NP_000074.3:n.1065-73C>T
NR_046453.2:n.1170-73C>T