Canonical Allele Identifier: CA578626911

Gene: CLCN1

Linked Data

• dbSNP Id: rs1321506040
• gnomAD v2: 7-143049058-A-AC
• gnomAD v4: 7-143351965-A-AC
• MyVariant Identifiers: chr7:g.143049058_143049059insC (hg19) ; chr7:g.143351965_143351966insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351970dup , CM000669.2:g.143351970dup	GRCh38
NC_000007.13:g.143049063dup , CM000669.1:g.143049063dup	GRCh37
NC_000007.12:g.142759185dup	NCBI36
NG_009815.1:g.40845dup
NG_009815.2:g.40845dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.*5dup	ENSP00000498052.2:n.*5dup
ENST00000343257.7:c.*5dup MANE Select	ENSP00000339867.2:n.*5dup
ENST00000343257.6:c.*5dup	ENSP00000339867.2:n.*5dup
NM_000083.2:c.*5dup	NP_000074.2:n.*5dup
NR_046453.1:n.2912dup
XM_011515781.1:c.*5dup	XP_011514083.1:n.*5dup
XM_011515782.1:c.*5dup	XP_011514084.1:n.*5dup
XM_011515782.2:c.*5dup	XP_011514084.1:n.*5dup
XM_017011739.1:c.*5dup	XP_016867228.1:n.*5dup
XM_017011740.1:c.*5dup	XP_016867229.1:n.*5dup
NM_000083.3:c.*5dup MANE Select	NP_000074.3:n.*5dup
NR_046453.2:n.2927dup