Canonical Allele Identifier: CA578445415

Gene: CLCN1

Linked Data

• dbSNP Id: rs1219500989
• gnomAD v2: 7-143028183-CG-C
• gnomAD v3: 7-143331090-CG-C
• gnomAD v4: 7-143331090-CG-C
• MyVariant Identifiers: chr7:g.143028184del (hg19) ; chr7:g.143331091del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143331091del , CM000669.2:g.143331091del	GRCh38
NC_000007.13:g.143028184del , CM000669.1:g.143028184del	GRCh37
NC_000007.12:g.142738306del	NCBI36
NG_009815.1:g.19966del
NG_009815.2:g.19966del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.980-141del	ENSP00000498052.2:n.980-141del
ENST00000343257.7:c.980-141del MANE Select	ENSP00000339867.2:n.980-141del
ENST00000432192.6:c.804-141del
ENST00000343257.6:c.980-141del	ENSP00000339867.2:n.980-141del
NM_000083.2:c.980-141del	NP_000074.2:n.980-141del
NR_046453.1:n.1070-141del
XM_011515781.1:c.980-141del	XP_011514083.1:n.980-141del
XM_017011739.1:c.530-141del	XP_016867228.1:n.530-141del
XM_017011740.1:c.530-141del	XP_016867229.1:n.530-141del
NM_000083.3:c.980-141del MANE Select	NP_000074.3:n.980-141del
NR_046453.2:n.1085-141del