Canonical Allele Identifier: CA369646463

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 2936812
• ClinVar RCV Id: RCV003799050
• gnomAD v4: 7-143341988-G-T
• MyVariant Identifiers: chr7:g.143039081G>T (hg19) ; chr7:g.143341988G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143341988G>T , CM000669.2:g.143341988G>T	GRCh38
NC_000007.13:g.143039081G>T , CM000669.1:g.143039081G>T	GRCh37
NC_000007.12:g.142749203G>T	NCBI36
NG_009815.1:g.30863G>T
NG_009815.2:g.30863G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1642G>T	ENSP00000498052.2:p.Glu548Ter
ENST00000343257.7:c.1642G>T MANE Select	ENSP00000339867.2:p.Glu548Ter
ENST00000432192.6:c.1466G>T
ENST00000343257.6:c.1642G>T	ENSP00000339867.2:p.Glu548Ter
NM_000083.2:c.1642G>T	NP_000074.2:p.Glu548Ter
NR_046453.1:n.1582G>T
XM_011515781.1:c.1666G>T	XP_011514083.1:p.Glu556Ter
XM_011515782.1:c.388G>T	XP_011514084.1:p.Glu130Ter
XM_011515782.2:c.388G>T	XP_011514084.1:p.Glu130Ter
XM_017011739.1:c.1216G>T	XP_016867228.1:p.Glu406Ter
XM_017011740.1:c.1192G>T	XP_016867229.1:p.Glu398Ter
NM_000083.3:c.1642G>T MANE Select	NP_000074.3:p.Glu548Ter
NR_046453.2:n.1597G>T