Canonical Allele Identifier: CA168212780

Gene: CLCN1

Linked Data

• dbSNP Id: rs1045614546
• gnomAD v4: 7-143331035-T-G
• MyVariant Identifiers: chr7:g.143028128T>G (hg19) ; chr7:g.143331035T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143331035T>G , CM000669.2:g.143331035T>G	GRCh38
NC_000007.13:g.143028128T>G , CM000669.1:g.143028128T>G	GRCh37
NC_000007.12:g.142738250T>G	NCBI36
NG_009815.1:g.19910T>G
NG_009815.2:g.19910T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.979+138T>G	ENSP00000498052.2:n.979+138T>G
ENST00000343257.7:c.979+138T>G MANE Select	ENSP00000339867.2:n.979+138T>G
ENST00000432192.6:c.803+138T>G
ENST00000343257.6:c.979+138T>G	ENSP00000339867.2:n.979+138T>G
NM_000083.2:c.979+138T>G	NP_000074.2:n.979+138T>G
NR_046453.1:n.1069+138T>G
XM_011515781.1:c.979+138T>G	XP_011514083.1:n.979+138T>G
XM_017011739.1:c.529+138T>G	XP_016867228.1:n.529+138T>G
XM_017011740.1:c.529+138T>G	XP_016867229.1:n.529+138T>G
NM_000083.3:c.979+138T>G MANE Select	NP_000074.3:n.979+138T>G
NR_046453.2:n.1084+138T>G