Canonical Allele Identifier: CA168221860

Gene: CLCN1

Linked Data

• dbSNP Id: rs750548600
• gnomAD v3: 7-143342213-CTTAGAG-C
• gnomAD v4: 7-143342213-CTTAGAG-C
• MyVariant Identifiers: chr7:g.143039307_143039312del (hg19) ; chr7:g.143342214_143342219del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143342217_143342222del , CM000669.2:g.143342217_143342222del	GRCh38
NC_000007.13:g.143039310_143039315del , CM000669.1:g.143039310_143039315del	GRCh37
NC_000007.12:g.142749432_142749437del	NCBI36
NG_009815.1:g.31092_31097del
NG_009815.2:g.31092_31097del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1796+75_1796+80del	ENSP00000498052.2:n.1796+75_1796+80del
ENST00000343257.7:c.1796+75_1796+80del MANE Select	ENSP00000339867.2:n.1796+75_1796+80del
ENST00000432192.6:c.1620+75_1620+80del
ENST00000343257.6:c.1796+75_1796+80del	ENSP00000339867.2:n.1796+75_1796+80del
NM_000083.2:c.1796+75_1796+80del	NP_000074.2:n.1796+75_1796+80del
NR_046453.1:n.1736+75_1736+80del
XM_011515781.1:c.1820+75_1820+80del	XP_011514083.1:n.1820+75_1820+80del
XM_011515782.1:c.542+75_542+80del	XP_011514084.1:n.542+75_542+80del
XM_011515782.2:c.542+75_542+80del	XP_011514084.1:n.542+75_542+80del
XM_017011739.1:c.1370+75_1370+80del	XP_016867228.1:n.1370+75_1370+80del
XM_017011740.1:c.1346+75_1346+80del	XP_016867229.1:n.1346+75_1346+80del
NM_000083.3:c.1796+75_1796+80del MANE Select	NP_000074.3:n.1796+75_1796+80del
NR_046453.2:n.1751+75_1751+80del