Canonical Allele Identifier: CA834513044

Gene: CLCN1

Linked Data

• dbSNP Id: rs1233354893
• gnomAD v4: 7-143332278-G-GT
• MyVariant Identifiers: chr7:g.143029371_143029372insT (hg19) ; chr7:g.143332278_143332279insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143332284dup , CM000669.2:g.143332284dup	GRCh38
NC_000007.13:g.143029377dup , CM000669.1:g.143029377dup	GRCh37
NC_000007.12:g.142739499dup	NCBI36
NG_009815.1:g.21159dup
NG_009815.2:g.21159dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1167-135dup	ENSP00000498052.2:n.1167-135dup
ENST00000343257.7:c.1167-135dup MANE Select	ENSP00000339867.2:n.1167-135dup
ENST00000432192.6:c.991-135dup
ENST00000343257.6:c.1167-135dup	ENSP00000339867.2:n.1167-135dup
NM_000083.2:c.1167-135dup	NP_000074.2:n.1167-135dup
NR_046453.1:n.1257-135dup
XM_011515781.1:c.1167-135dup	XP_011514083.1:n.1167-135dup
XM_011515782.1:c.-3-440dup	XP_011514084.1:n.-3-440dup
XM_011515782.2:c.-3-440dup	XP_011514084.1:n.-3-440dup
XM_017011739.1:c.717-135dup	XP_016867228.1:n.717-135dup
XM_017011740.1:c.717-135dup	XP_016867229.1:n.717-135dup
NM_000083.3:c.1167-135dup MANE Select	NP_000074.3:n.1167-135dup
NR_046453.2:n.1272-135dup