Canonical Allele Identifier: CA168213823

Gene: CLCN1

Linked Data

• dbSNP Id: rs113731371
• gnomAD v3: 7-143332276-TG-T
• gnomAD v4: 7-143332276-TG-T
• MyVariant Identifiers: chr7:g.143029370del (hg19) ; chr7:g.143332277del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143332278del , CM000669.2:g.143332278del	GRCh38
NC_000007.13:g.143029371del , CM000669.1:g.143029371del	GRCh37
NC_000007.12:g.142739493del	NCBI36
NG_009815.1:g.21153del
NG_009815.2:g.21153del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1167-141del	ENSP00000498052.2:n.1167-141del
ENST00000343257.7:c.1167-141del MANE Select	ENSP00000339867.2:n.1167-141del
ENST00000432192.6:c.991-141del
ENST00000343257.6:c.1167-141del	ENSP00000339867.2:n.1167-141del
NM_000083.2:c.1167-141del	NP_000074.2:n.1167-141del
NR_046453.1:n.1257-141del
XM_011515781.1:c.1167-141del	XP_011514083.1:n.1167-141del
XM_011515782.1:c.-3-446del	XP_011514084.1:n.-3-446del
XM_011515782.2:c.-3-446del	XP_011514084.1:n.-3-446del
XM_017011739.1:c.717-141del	XP_016867228.1:n.717-141del
XM_017011740.1:c.717-141del	XP_016867229.1:n.717-141del
NM_000083.3:c.1167-141del MANE Select	NP_000074.3:n.1167-141del
NR_046453.2:n.1272-141del