Canonical Allele Identifier: CA4537255

Gene: CLCN1

Linked Data

• dbSNP Id: rs759193404
• ExAC: 7:143029465 A / AC
• gnomAD v2: 7-143029465-A-AC
• gnomAD v4: 7-143332372-A-AC
• MyVariant Identifiers: chr7:g.143029465_143029466insC (hg19) ; chr7:g.143332372_143332373insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143332373dup , CM000669.2:g.143332373dup	GRCh38
NC_000007.13:g.143029466dup , CM000669.1:g.143029466dup	GRCh37
NC_000007.12:g.142739588dup	NCBI36
NG_009815.1:g.21248dup
NG_009815.2:g.21248dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1167-46dup	ENSP00000498052.2:n.1167-46dup
ENST00000343257.7:c.1167-46dup MANE Select	ENSP00000339867.2:n.1167-46dup
ENST00000432192.6:c.991-46dup
ENST00000343257.6:c.1167-46dup	ENSP00000339867.2:n.1167-46dup
NM_000083.2:c.1167-46dup	NP_000074.2:n.1167-46dup
NR_046453.1:n.1257-46dup
XM_011515781.1:c.1167-46dup	XP_011514083.1:n.1167-46dup
XM_011515782.1:c.-3-351dup	XP_011514084.1:n.-3-351dup
XM_011515782.2:c.-3-351dup	XP_011514084.1:n.-3-351dup
XM_017011739.1:c.717-46dup	XP_016867228.1:n.717-46dup
XM_017011740.1:c.717-46dup	XP_016867229.1:n.717-46dup
NM_000083.3:c.1167-46dup MANE Select	NP_000074.3:n.1167-46dup
NR_046453.2:n.1272-46dup