Canonical Allele Identifier: CA2685380365

Gene: CLCN1

Linked Data

• gnomAD v4: 7-143350498-C-CAGGGCTGTGGGGAAGGCAGG

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143350501_143350520dup , CM000669.2:g.143350501_143350520dup	GRCh38
NC_000007.13:g.143047594_143047613dup , CM000669.1:g.143047594_143047613dup	GRCh37
NC_000007.12:g.142757716_142757735dup	NCBI36
NG_009815.1:g.39376_39395dup
NG_009815.2:g.39376_39395dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2508+25_2508+44dup	ENSP00000498052.2:n.2508+25_2508+44dup
ENST00000343257.7:c.2508+25_2508+44dup MANE Select	ENSP00000339867.2:n.2508+25_2508+44dup
ENST00000432192.6:c.2332+25_2332+44dup
ENST00000343257.6:c.2508+25_2508+44dup	ENSP00000339867.2:n.2508+25_2508+44dup
NM_000083.2:c.2508+25_2508+44dup	NP_000074.2:n.2508+25_2508+44dup
NR_046453.1:n.2448+25_2448+44dup
XM_011515781.1:c.2532+25_2532+44dup	XP_011514083.1:n.2532+25_2532+44dup
XM_011515782.1:c.1254+25_1254+44dup	XP_011514084.1:n.1254+25_1254+44dup
XM_011515782.2:c.1254+25_1254+44dup	XP_011514084.1:n.1254+25_1254+44dup
XM_017011739.1:c.2082+25_2082+44dup	XP_016867228.1:n.2082+25_2082+44dup
XM_017011740.1:c.2058+25_2058+44dup	XP_016867229.1:n.2058+25_2058+44dup
NM_000083.3:c.2508+25_2508+44dup MANE Select	NP_000074.3:n.2508+25_2508+44dup
NR_046453.2:n.2463+25_2463+44dup