Canonical Allele Identifier: CA369643682

Gene: CLCN1

Linked Data

• dbSNP Id: rs751309154
• gnomAD v2: 7-143029817-T-G
• gnomAD v4: 7-143332724-T-G
• MyVariant Identifiers: chr7:g.143029817T>G (hg19) ; chr7:g.143332724T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143332724T>G , CM000669.2:g.143332724T>G	GRCh38
NC_000007.13:g.143029817T>G , CM000669.1:g.143029817T>G	GRCh37
NC_000007.12:g.142739939T>G	NCBI36
NG_009815.1:g.21599T>G
NG_009815.2:g.21599T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1252T>G	ENSP00000498052.2:p.Leu418Val
ENST00000343257.7:c.1252T>G MANE Select	ENSP00000339867.2:p.Leu418Val
ENST00000432192.6:c.1076T>G
ENST00000343257.6:c.1252T>G	ENSP00000339867.2:p.Leu418Val
NM_000083.2:c.1252T>G	NP_000074.2:p.Leu418Val
NR_046453.1:n.1341+221T>G
XM_011515781.1:c.1276T>G	XP_011514083.1:p.Leu426Val
XM_011515782.1:c.-3T>G	XP_011514084.1:n.-3T>G
XM_011515782.2:c.-3T>G	XP_011514084.1:n.-3T>G
XM_017011739.1:c.826T>G	XP_016867228.1:p.Leu276Val
XM_017011740.1:c.802T>G	XP_016867229.1:p.Leu268Val
NM_000083.3:c.1252T>G MANE Select	NP_000074.3:p.Leu418Val
NR_046453.2:n.1356+221T>G