Canonical Allele Identifier: CA2685382593

Gene: CLCN1

Linked Data

• gnomAD v4: 7-143351576-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351576T>G , CM000669.2:g.143351576T>G	GRCh38
NC_000007.13:g.143048669T>G , CM000669.1:g.143048669T>G	GRCh37
NC_000007.12:g.142758791T>G	NCBI36
NG_009815.1:g.40451T>G
NG_009815.2:g.40451T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2596-18T>G	ENSP00000498052.2:n.2596-18T>G
ENST00000343257.7:c.2596-18T>G MANE Select	ENSP00000339867.2:n.2596-18T>G
ENST00000432192.6:c.2420-18T>G
ENST00000343257.6:c.2596-18T>G	ENSP00000339867.2:n.2596-18T>G
NM_000083.2:c.2596-18T>G	NP_000074.2:n.2596-18T>G
NR_046453.1:n.2536-18T>G
XM_011515781.1:c.2620-18T>G	XP_011514083.1:n.2620-18T>G
XM_011515782.1:c.1342-18T>G	XP_011514084.1:n.1342-18T>G
XM_011515782.2:c.1342-18T>G	XP_011514084.1:n.1342-18T>G
XM_017011739.1:c.2170-18T>G	XP_016867228.1:n.2170-18T>G
XM_017011740.1:c.2146-18T>G	XP_016867229.1:n.2146-18T>G
NM_000083.3:c.2596-18T>G MANE Select	NP_000074.3:n.2596-18T>G
NR_046453.2:n.2551-18T>G