Canonical Allele Identifier: CA834513092

Gene: CLCN1

Linked Data

• dbSNP Id: rs1214185689
• gnomAD v3: 7-143332401-ACT-A
• gnomAD v4: 7-143332401-ACT-A
• MyVariant Identifiers: chr7:g.143029495_143029496del (hg19) ; chr7:g.143332402_143332403del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143332404_143332405del , CM000669.2:g.143332404_143332405del	GRCh38
NC_000007.13:g.143029497_143029498del , CM000669.1:g.143029497_143029498del	GRCh37
NC_000007.12:g.142739619_142739620del	NCBI36
NG_009815.1:g.21279_21280del
NG_009815.2:g.21279_21280del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1167-15_1167-14del	ENSP00000498052.2:n.1167-15_1167-14del
ENST00000343257.7:c.1167-15_1167-14del MANE Select	ENSP00000339867.2:n.1167-15_1167-14del
ENST00000432192.6:c.991-15_991-14del
ENST00000343257.6:c.1167-15_1167-14del	ENSP00000339867.2:n.1167-15_1167-14del
NM_000083.2:c.1167-15_1167-14del	NP_000074.2:n.1167-15_1167-14del
NR_046453.1:n.1257-15_1257-14del
XM_011515781.1:c.1167-15_1167-14del	XP_011514083.1:n.1167-15_1167-14del
XM_011515782.1:c.-3-320_-3-319del	XP_011514084.1:n.-3-320_-3-319del
XM_011515782.2:c.-3-320_-3-319del	XP_011514084.1:n.-3-320_-3-319del
XM_017011739.1:c.717-15_717-14del	XP_016867228.1:n.717-15_717-14del
XM_017011740.1:c.717-15_717-14del	XP_016867229.1:n.717-15_717-14del
NM_000083.3:c.1167-15_1167-14del MANE Select	NP_000074.3:n.1167-15_1167-14del
NR_046453.2:n.1272-15_1272-14del