Canonical Allele Identifier: CA834501699

Gene: CLCN1

Linked Data

• dbSNP Id: rs1364593898
• gnomAD v3: 7-143351462-GT-G
• gnomAD v4: 7-143351462-GT-G
• MyVariant Identifiers: chr7:g.143048556del (hg19) ; chr7:g.143351463del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351466del , CM000669.2:g.143351466del	GRCh38
NC_000007.13:g.143048559del , CM000669.1:g.143048559del	GRCh37
NC_000007.12:g.142758681del	NCBI36
NG_009815.1:g.40341del
NG_009815.2:g.40341del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2596-128del	ENSP00000498052.2:n.2596-128del
ENST00000343257.7:c.2596-128del MANE Select	ENSP00000339867.2:n.2596-128del
ENST00000432192.6:c.2420-128del
ENST00000343257.6:c.2596-128del	ENSP00000339867.2:n.2596-128del
NM_000083.2:c.2596-128del	NP_000074.2:n.2596-128del
NR_046453.1:n.2536-128del
XM_011515781.1:c.2620-128del	XP_011514083.1:n.2620-128del
XM_011515782.1:c.1342-128del	XP_011514084.1:n.1342-128del
XM_011515782.2:c.1342-128del	XP_011514084.1:n.1342-128del
XM_017011739.1:c.2170-128del	XP_016867228.1:n.2170-128del
XM_017011740.1:c.2146-128del	XP_016867229.1:n.2146-128del
NM_000083.3:c.2596-128del MANE Select	NP_000074.3:n.2596-128del
NR_046453.2:n.2551-128del