Canonical Allele Identifier: CA578445479

Gene: CLCN1

Linked Data

• dbSNP Id: rs1394134439
• gnomAD v2: 7-143029774-A-AGT
• gnomAD v3: 7-143332681-A-AGT
• gnomAD v4: 7-143332681-A-AGT
• MyVariant Identifiers: chr7:g.143029774_143029775insGT (hg19) ; chr7:g.143332681_143332682insGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143332682_143332683dup , CM000669.2:g.143332682_143332683dup	GRCh38
NC_000007.13:g.143029775_143029776dup , CM000669.1:g.143029775_143029776dup	GRCh37
NC_000007.12:g.142739897_142739898dup	NCBI36
NG_009815.1:g.21557_21558dup
NG_009815.2:g.21557_21558dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1252-42_1252-41dup	ENSP00000498052.2:n.1252-42_1252-41dup
ENST00000343257.7:c.1252-42_1252-41dup MANE Select	ENSP00000339867.2:n.1252-42_1252-41dup
ENST00000432192.6:c.1076-42_1076-41dup
ENST00000343257.6:c.1252-42_1252-41dup	ENSP00000339867.2:n.1252-42_1252-41dup
NM_000083.2:c.1252-42_1252-41dup	NP_000074.2:n.1252-42_1252-41dup
NR_046453.1:n.1341+179_1341+180dup
XM_011515781.1:c.1276-42_1276-41dup	XP_011514083.1:n.1276-42_1276-41dup
XM_011515782.1:c.-3-42_-3-41dup	XP_011514084.1:n.-3-42_-3-41dup
XM_011515782.2:c.-3-42_-3-41dup	XP_011514084.1:n.-3-42_-3-41dup
XM_017011739.1:c.826-42_826-41dup	XP_016867228.1:n.826-42_826-41dup
XM_017011740.1:c.802-42_802-41dup	XP_016867229.1:n.802-42_802-41dup
NM_000083.3:c.1252-42_1252-41dup MANE Select	NP_000074.3:n.1252-42_1252-41dup
NR_046453.2:n.1356+179_1356+180dup